RU2016141308A - Обнаружение мутаций и плоидности в хромосомных сегментах - Google Patents

Обнаружение мутаций и плоидности в хромосомных сегментах Download PDF

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RU2016141308A
RU2016141308A RU2016141308A RU2016141308A RU2016141308A RU 2016141308 A RU2016141308 A RU 2016141308A RU 2016141308 A RU2016141308 A RU 2016141308A RU 2016141308 A RU2016141308 A RU 2016141308A RU 2016141308 A RU2016141308 A RU 2016141308A
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sample
individual
polymorphic loci
probabilities
allele
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RU2016141308A
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RU2717641C2 (ru
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Джошуа БАБИАРЦ
Тюдор Помпилиу КОНСТАНТИН
Лейн А. ЮБАНК
Джордж ДЖЕМЕЛОС
Мэттью Мика ХИЛЛ
Хусейн Эсер КИРКИЗЛЯР
Мэттью РАБИНОВИЦ
Онур САКАРИЯ
Стёрмир СИГУРДЖОНССОН
Бернхард ЗИММЕРМАН
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Натера, Инк.
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Claims (75)

1. Способ определения плоидности хромосомного сегмента в образце индивидуума, предусматривающий:
a. получение данных о частоте аллелей, сгенерированных из образца, содержащих количество каждого аллеля, присутствующего в образце, в каждом локусе в совокупности полиморфных локусов на хромосомном сегменте;
b. создание фазированной аллельной информации для совокупности полиморфных локусов путем оценки фазы данных о частоте аллелей;
c. создание индивидуальных вероятностей частот аллелей для полиморфных локусов для различных состояний плоидности с использованием данных о частоте аллелей, где индивидуальные вероятности получают с использованием совокупности моделей, как различных состояний плоидности, так и фракций аллельного дисбаланса для совокупности полиморфных локусов;
d. создание совместных вероятностей для совокупности полиморфных локусов с использованием индивидуальных вероятностей и фазированной аллельной информации и учет взаимосвязи между полиморфными локусами на хромосомном сегменте; а также
e. выбор, основанный на совместных вероятностях, наиболее подходящей модели, указывающей на хромосомную плоидность, тем самым определяя плоидность хромосомного сегмента, где образец представляет собой образец крови, образец плазмы или образец сыворотки от индивидуума, у которого подозревают наличие злокачественной опухоли, и способ дополнительно предусматривает определение на основании выбора того, присутствует ли в клетках опухоли индивидуума вариация числа копий.
2. Способ по п. 1, при котором данные о частоте аллелей получают из данных о последовательности нуклеиновых кислот.
3. Способ по п. 1, дополнительно предусматривающий стадию исправления ошибок в данных о частоте аллелей и использование исправленных данных о частоте аллелей для создания стадии индивидуальных вероятностей, где исправляемые ошибки представляют собой систематические ошибки эффективности амплификации аллелей.
4. Способ обнаружения хромосомной плоидности в образце индивидуума, предусматривающий:
a. получение данных о последовательности нуклеиновой кислоты, сгенерированных из образца, для аллелей в совокупности полиморфных локусов на хромосомном сегменте у индивидуума;
b. обнаружение частот аллелей в совокупности локусов с использованием данных о последовательностях нуклеиновых кислот;
c. коррекция систематических ошибок эффективности амплификации аллелей в обнаруженных частотах аллелей для получения скорректированных частот аллелей для совокупности полиморфных локусов;
d. создание фазированной аллельной информации для совокупности полиморфных локусов путем оценки фазы данных о последовательностях нуклеиновых кислот;
e. создание индивидуальных вероятностей частот аллелей для полиморфных локусов для различных состояний плоидности путем сравнения скорректированных частот аллелей с совокупностью моделей различных состояний плоидности и фракций аллельного дисбаланса совокупности полиморфных локусов;
f. создание совместных вероятностей для совокупности полиморфных локусов путем объединения индивидуальных вероятностей с учетом связи между полиморфными локусами на хромосомном сегменте; а также
g. выбор, основанный на совместных вероятностях, наиболее подходящей модели, указывающей на хромосомную плоидность, где образец представляет собой образец крови, образец плазмы или образец сыворотки от индивидуума, у которого подозревают наличие злокачественной опухоли, и способ дополнительно предусматривает определение на основании выбора того, присутствует ли в клетках опухоли индивидуума вариация числа копий.
5. Способ по любому из пп. 1-4, при котором индивидуальные вероятности создаются путем моделирования состояний плоидности первого гомолога хромосомного сегмента и второго гомолога хромосомного сегмента, причем состояния плоидности заключаются в том, что:
(1) все клетки характеризуются отсутствием делеции или амплификации первого гомолога или второго гомолога хромосомного сегмента;
(2) по меньшей мере некоторые клетки характеризуются наличием делеции первого гомолога или амплификации второго гомолога хромосомного сегмента; а также
(3) по меньшей мере некоторые клетки характеризуются наличием делеции второго гомолога или амплификации первого гомолога хромосомного сегмента.
6. Способ по п. 4, при котором ошибки, которые исправляются, содержат загрязнение от окружающей среды и загрязнение генотипа и определяются для гомозиготных аллелей в образце.
7. Способ по п. 4, при котором отбор осуществляется путем анализа величины разницы между фазированной аллельной информацией и расчетными частотами аллелей, полученными для моделей, и выбирается модель с меньшей величиной разницы.
8. Способ по любому из пп. 1-3, 4, 6 и 7, при котором индивидуальные вероятности частот аллелей
(i) получают на основании бета-биномиальной модели ожидаемых и наблюдаемых частот аллелей в совокупности полиморфных локусов; или
(ii) получают с использованием Байесовского классификатора.
9. Способ по любому из пп. 2 или 4, при котором данные о последовательности нуклеиновой кислоты получают посредством выполнения секвенирования ДНК с высокой пропускной способностью множества копий серий ампликонов, полученных с использованием мультиплексной реакции амплификации, причем каждый ампликон из серии ампликонов охватывает по меньшей мере один полиморфный локус совокупности полиморфных локусов и причем каждый из полиморфных локусов совокупности амплифицируется.
10. Способ по п. 9, при котором мультиплексную реакцию амплификации
(i) осуществляют в условиях ограниченного количества праймера; или
(ii) содержит от 1000 до 100000 мультиплексных реакций.
11. Способ по п. 9, при котором хромосомную плоидность определяют для совокупности хромосомных сегментов в образце.
12. Способ по любому из пп. 1-3, 4, 6 и 7, в котором средний аллельный дисбаланс, превышающий 0,45%, свидетельствует о присутствии в клетках опухоли индивидуума вариации числа копий.
13. Способ по любому из пп. 1-3, 4, 6 или 7, при котором образец представляет собой образец плазмы от индивидуума, у которого ранее имелась солидная опухоль.
14. Способ по пп. 1-3, 4, 6 или 7, дополнительно предусматривающий определение, представлен ли однонуклеотидный вариант в образце в целевой совокупности однонуклеотидных вариантов, причем обнаружение либо вариации числа копий, либо однонуклеотидного варианта, либо и того и другого указывает на наличие циркулирующих опухолевых нуклеиновых кислот в образце.
15. Способ по п. 13, дополнительно предусматривающий получение информации о гаплотипе хромосомного сегмента для опухоли индивидуума и использование информации о гаплотипе для создания совокупности моделей различных состояний плоидности и фракций аллельного дисбаланса совокупности полиморфных локусов.
16. Способ по любому из пп. 1-3, 4, 6 или 7, при котором способ дополнительно предусматривает
(i) стадию удаления выбросов из скорректированных данных о частоте аллеля перед сравнением скорректированных частот аллелей с совокупностью моделей; или
(ii) реализацию способа на контрольном образце с известным средним соотношением аллельного дисбаланса.
17. Система для определения хромосомной плоидности в образце индивидуума, содержащая:
a. входной процессор, выполненный с возможностью приема данных о частоте аллелей, сгенерированных из образца, содержащих количество каждого аллеля, присутствующих в образце в каждом локусе в совокупности полиморфных локусов на хромосомном сегменте;
b. моделирующее устройство, выполненное с возможностью:
I. создавать фазированную аллельную информацию для совокупности полиморфных локусов путем оценки фазы данных о частоте аллелей; а также
II. создавать индивидуальные вероятности частот аллелей для полиморфных локусов для различных состояний плоидности с использованием данных о частоте аллелей, где индивидуальные вероятности получают с использованием совокупности моделей, как различных состояний плоидности, так и фракций аллельного дисбаланса для совокупности полиморфных локусов; а также
III. создавать совместные вероятности для совокупности полиморфных локусов с использованием индивидуальных вероятностей и фазированной аллельной информации и учитывать взаимосвязь между полиморфными локусами на хромосомном сегменте; а также
c. менеджер гипотез, выполненный с возможностью выбирать, на основании совместных вероятностей, наиболее подходящую модель, указывающую на хромосомную плоидность, тем самым определяя плоидность хромосомного сегмента, где образец представляет собой образец крови, образец плазмы или образец сыворотки от индивидуума, у которого подозревают наличие злокачественной опухоли, и способ дополнительно предусматривает определение на основании выбора того, присутствует ли в клетках опухоли индивидуума вариация числа копий.
18. Система по п. 17, в которой данные о частоте аллелей создаются системой секвенирования нуклеиновых кислот.
19. Система по п. 18, дополнительно предусматривающая блок коррекции ошибок, выполненный с возможностью исправления ошибок в данных о частоте аллелей, причем исправленные данные о частоте аллелей используются для создания стадии индивидуальных вероятностей и причем ошибки, которые исправляют, представляют собой эффективность амплификации аллеля.
20. Система для определения хромосомной плоидности в образце индивидуума, содержащая:
a. входной процессор, выполненный с возможностью приема данных о последовательности нуклеиновой кислоты, сгенерированных из образца, для аллелей в совокупности полиморфных локусов на хромосомном сегменте у индивидуума, и обнаружения частоты аллелей в совокупности локусов с использованием данных о последовательности нуклеиновой кислоты;
b. блок коррекции ошибок, выполненный с возможностью исправления ошибок в обнаруженных частотах аллелей и создания скорректированных частот аллелей для совокупности полиморфных локусов;
c. моделирующее устройство, выполненное с возможностью:
I. создавать фазированную аллельную информацию для совокупности полиморфных локусов путем оценки фазы данных о последовательности нуклеиновой кислоты;
II. создавать индивидуальные вероятности частот аллелей для полиморфных локусов для различных состояний плоидности путем сравнения фазированной аллельной информации с совокупностью моделей различных состояний плоидности и фракций аллельного дисбаланса совокупности полиморфных локусов; а также
III. создавать совместные вероятности для совокупности полиморфных локусов путем объединения индивидуальных вероятностей с учетом относительного расстояния между полиморфными локусами на хромосомном сегменте; а также
d. менеджер гипотез, выполненный с возможностью выбора, основанного на совместных вероятностях, наиболее подходящей модели, указывающей на хромосомную анеуплоидию, где образец представляет собой образец крови, образец плазмы или образец сыворотки от индивидуума, у которого подозревают наличие злокачественной опухоли, и способ дополнительно предусматривает определение на основании выбора того, присутствует ли в клетках опухоли индивидуума вариация числа копий.
21. Система по п. 20, в которой менеджер гипотез выбирает путем анализа величины разницы между фазированной аллельной информацией и расчетными частотами аллелей, созданными для моделей и выбирает модель с меньшей величиной разницы.
22. Система по п. 21, в которой моделирующее устройство создает индивидуальные вероятности частот аллелей на основе бета-биномиальной модели ожидаемых и наблюдаемых частот аллелей в совокупности полиморфных локусов.
23. Энергонезависимый машиночитаемый носитель для обнаружения хромосомной плоидности в образце индивидуума, содержащий машиночитаемый код, который, когда он выполняется устройством обработки данных, приводит к тому, что устройство обработки данных:
a. получает данные о частоте аллелей, сгенерированные из образца, содержащие количество каждого аллеля, присутствующего в образце в каждом локусе в совокупности полиморфных локусов на хромосомном сегменте;
b. создает фазированную аллельную информацию для совокупности полиморфных локусов путем оценки фазы данных о частоте аллелей;
c. создает индивидуальные вероятности частот аллелей для полиморфных локусов для различных состояний плоидности с использованием данных о частоте аллелей, где индивидуальные вероятности получают с использованием совокупности моделей, как различных состояний плоидности, так и фракций аллельного дисбаланса для полиморфных локусов;
d. создает совместные вероятности для совокупности полиморфных локусов с использованием индивидуальных вероятностей и фазированной аллельной информации и учитывает взаимосвязь между полиморфными локусами на хромосомном сегменте; а также
e. выбирает, основываясь на совместных вероятностях, наиболее подходящую модель, указывающую на хромосомную плоидность, определяя тем самым плоидность хромосомного сегмента, где образец представляет собой образец крови, образец плазмы или образец сыворотки от индивидуума, у которого подозревают наличие злокачественной опухоли, и способ дополнительно предусматривает определение на основании выбора того, присутствует ли в клетках опухоли индивидуума вариация числа копий.
24. Машиночитаемый носитель в соответствии с п. 23, в котором данные о частоте аллелей получают из данных о последовательностях нуклеиновых кислот.
25. Машиночитаемый носитель в соответствии с п. 23, дополнительно предусматривающий исправление ошибок в данных о частоте аллелей и использование исправленных данных о частоте аллелей для создания стадии индивидуальных вероятностей, где ошибки, которые исправляются, представляют собой систематические ошибки эффективности амплификации аллелей.
26. Энергонезависимый машиночитаемый носитель для обнаружения хромосомной плоидности в образце индивидуума, содержащий машиночитаемый код, который, когда он выполняется устройством обработки данных, приводит к тому, что устройство обработки данных:
a. получает данные о последовательности нуклеиновой кислоты, сгенерированные из образца, для аллелей в совокупности полиморфных локусов на хромосомном сегменте у индивидуума;
b. обнаруживает частоты аллелей в совокупности локусов с использованием данных о последовательностях нуклеиновых кислот;
c. корректирует систематические ошибки эффективности амплификации аллелей в обнаруженных частотах аллелей для получения скорректированных частот аллелей для совокупности полиморфных локусов;
d. создает фазированную аллельную информацию для совокупности полиморфных локусов путем оценки фазы данных о последовательностях нуклеиновых кислот;
e. создает индивидуальные вероятности частот аллелей для полиморфных локусов для различных состояний плоидности путем сравнения скорректированных частот аллелей с совокупностью моделей различных состояний плоидности и фракций аллельного дисбаланса совокупности полиморфных локусов;
f. создает совместные вероятности для совокупности полиморфных локусов путем объединения индивидуальных вероятностей с учетом связи между полиморфными локусами на хромосомном сегменте; а также
g. выбирает основанную на совместных вероятностях наиболее подходящую модель, указывающую на хромосомную анеуплоидию, где образец представляет собой образец крови, образец плазмы или образец сыворотки от индивидуума, у которого подозревают наличие злокачественной опухоли, и способ дополнительно предусматривает определение на основании выбора того, присутствует ли в клетках опухоли индивидуума вариация числа копий.
27. Машиночитаемый носитель по п. 26, в котором выбор осуществляется путем анализа величины разницы между фазированной аллельной информацией и расчетными частотами аллелей, создаваемые для моделей, и выбирается модель с меньшей величиной разницы.
28. Машиночитаемый носитель по любому из пп. 23-25 и 26, в котором индивидуальные вероятности частот аллелей создаются на основании бета-биномиальной модели ожидаемой и наблюдаемой частот аллелей в совокупности полиморфных локусов.
29. Способ по любому из пп. 2-3, 4, 6 или 7, дополнительно предусматривающий определение, представлен ли однонуклеотидный вариант в образце в целевой совокупности однонуклеотидных вариантов, причем обнаружение либо вариации числа копий, либо однонуклеотидного варианта, либо и того и другого указывает на наличие циркулирующих опухолевых нуклеиновых кислот в образце, данные о последовательности нуклеиновой кислоты получают посредством выполнения секвенирования ДНК с высокой пропускной способностью множества копий серий ампликонов, полученных с использованием мультиплексной реакции амплификации, причем каждый ампликон из серии ампликонов охватывает по меньшей мере один полиморфный локус совокупности полиморфных локусов и причем каждый из полиморфных локусов совокупности амплифицируется, и где образец крови, образец плазмы или образец сыворотки используется для определения, присутствует ли в клетках опухоли индивидуума вариация числа копий, или однонуклеотидная вариация, или и то и другое.
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Families Citing this family (121)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US9424392B2 (en) 2005-11-26 2016-08-23 Natera, Inc. System and method for cleaning noisy genetic data from target individuals using genetic data from genetically related individuals
US11111544B2 (en) 2005-07-29 2021-09-07 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US11111543B2 (en) 2005-07-29 2021-09-07 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US10081839B2 (en) 2005-07-29 2018-09-25 Natera, Inc System and method for cleaning noisy genetic data and determining chromosome copy number
WO2011041485A1 (en) 2009-09-30 2011-04-07 Gene Security Network, Inc. Methods for non-invasive prenatal ploidy calling
US11408031B2 (en) 2010-05-18 2022-08-09 Natera, Inc. Methods for non-invasive prenatal paternity testing
US11322224B2 (en) 2010-05-18 2022-05-03 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US11339429B2 (en) 2010-05-18 2022-05-24 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US11326208B2 (en) 2010-05-18 2022-05-10 Natera, Inc. Methods for nested PCR amplification of cell-free DNA
US11332793B2 (en) 2010-05-18 2022-05-17 Natera, Inc. Methods for simultaneous amplification of target loci
US11939634B2 (en) 2010-05-18 2024-03-26 Natera, Inc. Methods for simultaneous amplification of target loci
EP2854057B1 (en) 2010-05-18 2018-03-07 Natera, Inc. Methods for non-invasive pre-natal ploidy calling
US20190010543A1 (en) 2010-05-18 2019-01-10 Natera, Inc. Methods for simultaneous amplification of target loci
US11332785B2 (en) 2010-05-18 2022-05-17 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US10316362B2 (en) 2010-05-18 2019-06-11 Natera, Inc. Methods for simultaneous amplification of target loci
US9677118B2 (en) 2014-04-21 2017-06-13 Natera, Inc. Methods for simultaneous amplification of target loci
AU2011348100B2 (en) 2010-12-22 2016-08-25 Natera, Inc. Methods for non-invasive prenatal paternity testing
RU2671980C2 (ru) 2011-02-09 2018-11-08 Натера, Инк. Способы неинвазивного пренатального установления плоидности
EP2697397B1 (en) 2011-04-15 2017-04-05 The Johns Hopkins University Safe sequencing system
US9892230B2 (en) 2012-03-08 2018-02-13 The Chinese University Of Hong Kong Size-based analysis of fetal or tumor DNA fraction in plasma
EP2946345B1 (en) 2013-01-17 2024-04-03 Personalis, Inc. Methods and systems for genetic analysis
US10577655B2 (en) 2013-09-27 2020-03-03 Natera, Inc. Cell free DNA diagnostic testing standards
US10262755B2 (en) 2014-04-21 2019-04-16 Natera, Inc. Detecting cancer mutations and aneuploidy in chromosomal segments
CN113774132A (zh) 2014-04-21 2021-12-10 纳特拉公司 检测染色体片段中的突变和倍性
ES2741400T3 (es) 2014-07-18 2020-02-10 Univ Hong Kong Chinese Análisis de patrones de metilación de tejidos en mezcla de ADN
EP2977912A1 (de) * 2014-07-25 2016-01-27 Franz-Peter Dr. Liebel Automatisierte Diagnostik
KR20220127359A (ko) * 2014-07-25 2022-09-19 유니버시티 오브 워싱톤 무세포 dna를 생성하는 조직 및/또는 세포 유형을 결정하는 방법 및 이를 사용하여 질환 또는 장애를 확인하는 방법
EP3212808B1 (en) 2014-10-30 2022-03-02 Personalis, Inc. Methods for using mosaicism in nucleic acids sampled distal to their origin
US10364467B2 (en) 2015-01-13 2019-07-30 The Chinese University Of Hong Kong Using size and number aberrations in plasma DNA for detecting cancer
WO2016183106A1 (en) 2015-05-11 2016-11-17 Natera, Inc. Methods and compositions for determining ploidy
US10395759B2 (en) 2015-05-18 2019-08-27 Regeneron Pharmaceuticals, Inc. Methods and systems for copy number variant detection
US11302416B2 (en) * 2015-09-02 2022-04-12 Guardant Health Machine learning for somatic single nucleotide variant detection in cell-free tumor nucleic acid sequencing applications
EP3443066A4 (en) * 2016-04-14 2019-12-11 Guardant Health, Inc. EARLY DETECTION METHODS FOR CANCER
ES2913468T3 (es) * 2016-04-15 2022-06-02 Natera Inc Métodos para la detección del cáncer de pulmón.
US11299783B2 (en) 2016-05-27 2022-04-12 Personalis, Inc. Methods and systems for genetic analysis
CA3126055A1 (en) 2016-09-30 2018-04-05 Guardant Health, Inc. Methods for multi-resolution analysis of cell-free nucleic acids
US11485996B2 (en) 2016-10-04 2022-11-01 Natera, Inc. Methods for characterizing copy number variation using proximity-litigation sequencing
GB201618485D0 (en) * 2016-11-02 2016-12-14 Ucl Business Plc Method of detecting tumour recurrence
AU2017369018B2 (en) 2016-11-30 2021-02-25 The Chinese University Of Hong Kong Analysis of cell-free DNA in urine and other samples
US10011870B2 (en) 2016-12-07 2018-07-03 Natera, Inc. Compositions and methods for identifying nucleic acid molecules
CN108277267B (zh) * 2016-12-29 2019-08-13 安诺优达基因科技(北京)有限公司 检测基因突变的装置和用于对孕妇和胎儿的基因型进行分型的试剂盒
CN110199359B (zh) * 2017-01-11 2023-07-14 皇家飞利浦有限公司 用于自动的包含或排除准则检测的方法和系统
WO2018156418A1 (en) 2017-02-21 2018-08-30 Natera, Inc. Compositions, methods, and kits for isolating nucleic acids
US11342047B2 (en) * 2017-04-21 2022-05-24 Illumina, Inc. Using cell-free DNA fragment size to detect tumor-associated variant
CN108804876B (zh) * 2017-05-05 2022-03-15 中国科学院上海药物研究所 用于计算癌症样本纯度和染色体倍性的方法和装置
KR102145417B1 (ko) * 2017-05-24 2020-08-19 지니너스 주식회사 무세포 핵산으로부터 수득된 서열 분석 데이터에 대한 배경 대립인자의 빈도 분포를 생성하는 방법 및 이를 이용하여 무세포 핵산으로부터 변이를 검출하는 방법
CN109136355A (zh) * 2017-06-19 2019-01-04 北京大学第三医院 一种体外评估胎儿双胎输血综合征发生的snp阵列芯片
WO2018237075A1 (en) 2017-06-20 2018-12-27 The Medical College Of Wisconsin, Inc. ASSESSING THE RISK OF GRAFT COMPLICATION WITH TOTAL ACELLULAR DNA
US11450121B2 (en) * 2017-06-27 2022-09-20 The Regents Of The University Of California Label-free digital brightfield analysis of nucleic acid amplification
CN107164535A (zh) * 2017-07-07 2017-09-15 沈阳宁沪科技有限公司 一种无创高通量甲基化结肠癌诊断、研究和治疗方法
US10622095B2 (en) * 2017-07-21 2020-04-14 Helix OpCo, LLC Genomic services platform supporting multiple application providers
US11608533B1 (en) * 2017-08-21 2023-03-21 The General Hospital Corporation Compositions and methods for classifying tumors with microsatellite instability
JP7029719B2 (ja) * 2017-08-31 2022-03-04 静岡県 バイオマーカー
CN110021355B (zh) * 2017-09-22 2021-05-04 深圳华大生命科学研究院 二倍体基因组测序片段的单倍体分型和变异检测方法和装置
EP3460071A1 (en) * 2017-09-22 2019-03-27 Lexogen GmbH Estimating pre-pcr fragment numbers from post-pcr frequencies of unique molecular identifiers
CN107641648A (zh) * 2017-10-19 2018-01-30 深圳华大基因股份有限公司 一种用于检测染色体畸变的标准品及其制备方法
JP7299169B2 (ja) * 2017-12-01 2023-06-27 イルミナ インコーポレイテッド 体細胞突然変異のクローン性を決定するための方法及びシステム
CN109979529B (zh) * 2017-12-28 2021-01-08 北京安诺优达医学检验实验室有限公司 Cnv检测装置
US20210158895A1 (en) * 2018-04-13 2021-05-27 Dana-Farber Cancer Institute, Inc. Ultra-sensitive detection of cancer by algorithmic analysis
US11874220B2 (en) 2018-04-26 2024-01-16 Ppg Industries Ohio, Inc. Formulation systems and methods employing target coating data results
US10970879B2 (en) 2018-04-26 2021-04-06 Ppg Industries Ohio, Inc. Formulation systems and methods employing target coating data results
US10871888B2 (en) 2018-04-26 2020-12-22 Ppg Industries Ohio, Inc. Systems, methods, and interfaces for rapid coating generation
US11119035B2 (en) * 2018-04-26 2021-09-14 Ppg Industries Ohio, Inc. Systems and methods for rapid coating composition determinations
CN108588201B (zh) * 2018-05-11 2019-08-09 浙江省人民医院 一种结直肠癌西妥昔单抗耐药性痕量dna突变检测的方法及装置
US11814750B2 (en) 2018-05-31 2023-11-14 Personalis, Inc. Compositions, methods and systems for processing or analyzing multi-species nucleic acid samples
US10801064B2 (en) 2018-05-31 2020-10-13 Personalis, Inc. Compositions, methods and systems for processing or analyzing multi-species nucleic acid samples
TW202410055A (zh) 2018-06-01 2024-03-01 美商格瑞爾有限責任公司 用於資料分類之卷積神經網路系統及方法
US11525159B2 (en) 2018-07-03 2022-12-13 Natera, Inc. Methods for detection of donor-derived cell-free DNA
CN109461473B (zh) * 2018-09-30 2019-12-17 北京优迅医疗器械有限公司 胎儿游离dna浓度获取方法和装置
CN109971846A (zh) * 2018-11-29 2019-07-05 时代基因检测中心有限公司 使用双等位基因snp靶向下一代测序的非侵入性产前测定非整倍体的方法
US11581062B2 (en) 2018-12-10 2023-02-14 Grail, Llc Systems and methods for classifying patients with respect to multiple cancer classes
CN109686401B (zh) * 2018-12-19 2022-08-05 上海蓝沙生物科技有限公司 一种识别异源低频基因组信号唯一性的方法及其应用
CN109801677B (zh) * 2018-12-29 2023-05-23 浙江安诺优达生物科技有限公司 测序数据自动化分析方法、装置和电子设备
EP3915118A1 (en) * 2019-01-25 2021-12-01 Pacific Biosciences Of California, Inc. Systems and methods for graph based mapping of nucleic acid fragments
CN109837344B (zh) * 2019-03-04 2022-12-27 天津医科大学 一种甲基化的EphA7核苷酸片段及其检测方法和应用
WO2020206290A1 (en) * 2019-04-03 2020-10-08 The Medical College Of Wisconsin, Inc. Methods for assessing risk using total cell-free dna
US11931674B2 (en) 2019-04-04 2024-03-19 Natera, Inc. Materials and methods for processing blood samples
CN110129439A (zh) * 2019-04-28 2019-08-16 安徽鼎晶生物科技有限公司 一种人brca1/2基因变异检测质控品及其制备方法和应用
CN110106063B (zh) * 2019-05-06 2022-07-08 臻和精准医学检验实验室无锡有限公司 基于二代测序的用于神经胶质瘤1p/19q联合缺失检测的系统
AU2020274348A1 (en) * 2019-05-13 2021-12-09 Grail, Llc Model-based featurization and classification
US20210366569A1 (en) * 2019-06-03 2021-11-25 Illumina, Inc. Limit of detection based quality control metric
CN110379465A (zh) * 2019-07-19 2019-10-25 元码基因科技（北京）股份有限公司 基于rna靶向测序和机器学习的癌症组织溯源方法
CN110452988A (zh) * 2019-08-27 2019-11-15 武汉友芝友医疗科技股份有限公司 检测esr1基因突变的引物组、试剂、试剂盒和方法
CN110648722B (zh) * 2019-09-19 2022-05-31 首都医科大学附属北京儿童医院 新生儿遗传病患病风险评估的装置
CN112634986A (zh) * 2019-09-24 2021-04-09 厦门希吉亚生物科技有限公司 一种基于孕妇外周血对双胞胎合子性质的无创鉴定方法
DE112020005433T5 (de) 2019-11-06 2022-10-06 The Board Of Trustees Of The Leland Stanford Junior University Verfahren und Systeme zur Analyse von Nukleinsäuremolekülen
US11475981B2 (en) 2020-02-18 2022-10-18 Tempus Labs, Inc. Methods and systems for dynamic variant thresholding in a liquid biopsy assay
US11211147B2 (en) 2020-02-18 2021-12-28 Tempus Labs, Inc. Estimation of circulating tumor fraction using off-target reads of targeted-panel sequencing
US11211144B2 (en) 2020-02-18 2021-12-28 Tempus Labs, Inc. Methods and systems for refining copy number variation in a liquid biopsy assay
CN113496769B (zh) * 2020-03-20 2023-11-07 梅傲科技(广州)有限公司 基于病理组织的三联综合肿瘤分析系统和应用
CN111370065B (zh) * 2020-03-26 2022-10-04 北京吉因加医学检验实验室有限公司 一种检测rna跨样本交叉污染率的方法和装置
CN112885406B (zh) * 2020-04-16 2023-01-31 深圳裕策生物科技有限公司 检测hla杂合性缺失的方法及系统
US20210326332A1 (en) * 2020-04-17 2021-10-21 International Business Machines Corporation Temporal directed cycle detection and pruning in transaction graphs
CN111724860B (zh) * 2020-06-18 2021-03-16 深圳吉因加医学检验实验室 一种基于测序数据识别染色质开放区域的方法及装置
US11675599B2 (en) * 2020-08-04 2023-06-13 Dell Products L.P. Systems and methods for managing system rollup of accelerator health
CN114277129A (zh) * 2020-09-28 2022-04-05 北京市神经外科研究所 一种swi/snf基因改变在辅助诊断和预后脊索瘤中的应用
CN112094911A (zh) * 2020-10-10 2020-12-18 广西医科大学 Nrk在肺癌治疗和预后诊断中的医药用途
CN112397144B (zh) * 2020-10-29 2021-06-15 无锡臻和生物科技股份有限公司 检测基因突变及表达量的方法及装置
JP2023548113A (ja) * 2020-10-30 2023-11-15 マイオーム，インコーポレイテッド Ｃｎｖ検出を改善するための非誤り伝播相決定技術ならびに対立遺伝子バランスの組み合わせの使用
US11354286B1 (en) * 2020-11-02 2022-06-07 Workday, Inc. Outlier identification and removal
CN112634991B (zh) * 2020-12-18 2022-07-19 长沙都正生物科技股份有限公司 基因分型方法、装置、电子设备及存储介质
CN112592976B (zh) * 2020-12-30 2021-09-21 深圳市海普洛斯生物科技有限公司 一种检测met基因扩增的方法及装置
WO2022190752A1 (ja) 2021-03-12 2022-09-15 富士フイルム株式会社 がん検査試薬セット、がん検査試薬セットの製造方法及びがん検査方法
CN113096736B (zh) * 2021-03-26 2023-10-31 北京源生康泰基因科技有限公司 一种基于纳米孔测序的病毒实时自动分析方法及系统
WO2022212590A1 (en) * 2021-03-31 2022-10-06 Predicine, Inc. Systems and methods for multi-analyte detection of cancer
US11783912B2 (en) 2021-05-05 2023-10-10 The Board Of Trustees Of The Leland Stanford Junior University Methods and systems for analyzing nucleic acid molecules
CN113637751A (zh) * 2021-07-16 2021-11-12 暨南大学 Tnfaip3非编码序列突变检测试剂在制备预测t细胞淋巴瘤预后试剂盒中的应用
CN113808660B (zh) * 2021-09-13 2024-02-13 复旦大学附属华山医院 基于自然选择及数据库的遗传性罕见病患病率贝叶斯计算模型及其构建方法和应用
WO2023060236A1 (en) * 2021-10-08 2023-04-13 Foundation Medicine, Inc. Methods and systems for automated calling of copy number alterations
WO2023081639A1 (en) * 2021-11-03 2023-05-11 Foundation Medicine, Inc. System and method for identifying copy number alterations
EP4184514A1 (en) * 2021-11-23 2023-05-24 Eone Reference Laboratory Apparatus and method for diagnosing cancer using liquid biopsy data
CN114093417B (zh) * 2021-11-23 2022-10-04 深圳吉因加信息科技有限公司 一种鉴定染色体臂杂合性缺失的方法和装置
CN113913525A (zh) * 2021-11-24 2022-01-11 广州医科大学 Dnase1l3基因作为肝癌侵袭转移的检测和/或防治靶点的应用
US11788152B2 (en) 2022-01-28 2023-10-17 Flagship Pioneering Innovations Vi, Llc Multiple-tiered screening and second analysis
US20240150840A1 (en) * 2022-02-22 2024-05-09 Flagship Pioneering Innovations Vi, Llc Intra-individual analysis for presence of health conditions
WO2023177901A1 (en) * 2022-03-17 2023-09-21 Delfi Diagnostics, Inc. Method of monitoring cancer using fragmentation profiles
CN114807377B (zh) * 2022-06-29 2022-09-23 南京世和基因生物技术股份有限公司 膀胱癌预后生存期标志物的应用、评估装置以及计算机可读取介质
CN116805510A (zh) * 2022-09-01 2023-09-26 杭州链康医学检验实验室有限公司 用于判断样本配对或污染的位点组合及其应用
CN116004800B (zh) * 2022-12-09 2023-09-05 中国农业科学院北京畜牧兽医研究所 一种cnv标记在绵羊肥瘦尾早期筛选中的应用
CN117334249A (zh) * 2023-05-30 2024-01-02 上海品峰医疗科技有限公司 基于扩增子测序数据检测拷贝数变异的方法、设备和介质
CN117551782B (zh) * 2023-11-24 2024-05-07 江苏省家禽科学研究所 与鸡蛋尖端蛋壳厚度相关的分子标记在鸡遗传育种中的应用

Family Cites Families (548)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US3957654A (en) 1974-02-27 1976-05-18 Becton, Dickinson And Company Plasma separator with barrier to eject sealant
US4040785A (en) 1976-10-18 1977-08-09 Technicon Instruments Corporation Lysable blood preservative composition
US5242794A (en) 1984-12-13 1993-09-07 Applied Biosystems, Inc. Detection of specific sequences in nucleic acids
US4683195A (en) 1986-01-30 1987-07-28 Cetus Corporation Process for amplifying, detecting, and/or-cloning nucleic acid sequences
US4935342A (en) 1986-12-01 1990-06-19 Syngene, Inc. Method of isolating and purifying nucleic acids from biological samples
US4942124A (en) 1987-08-11 1990-07-17 President And Fellows Of Harvard College Multiplex sequencing
JP3040121B2 (ja) 1988-01-12 2000-05-08 ジェネンテク，インコーポレイテッド 増殖因子レセプターの機能を阻害することにより腫瘍細胞を処置する方法
US5153117A (en) 1990-03-27 1992-10-06 Genetype A.G. Fetal cell recovery method
US6582908B2 (en) 1990-12-06 2003-06-24 Affymetrix, Inc. Oligonucleotides
US5262329A (en) 1991-06-13 1993-11-16 Carver Jr Edward L Method for improved multiple species blood analysis
IL103935A0 (en) 1991-12-04 1993-05-13 Du Pont Method for the identification of microorganisms by the utilization of directed and arbitrary dna amplification
US5965362A (en) 1992-03-04 1999-10-12 The Regents Of The University Of California Comparative genomic hybridization (CGH)
GB9305984D0 (en) 1993-03-23 1993-05-12 Royal Free Hosp School Med Predictive assay
BR9407003A (pt) 1993-07-05 1996-03-26 North Gen Hospital Nhs Trust Preparaçao e estabilizaçao de células
WO1995006137A1 (en) 1993-08-27 1995-03-02 Australian Red Cross Society Detection of genes
CH686982A5 (fr) 1993-12-16 1996-08-15 Maurice Stroun Méthode pour le diagnostic de cancers.
SE9400522D0 (sv) 1994-02-16 1994-02-16 Ulf Landegren Method and reagent for detecting specific nucleotide sequences
US5716776A (en) 1994-03-04 1998-02-10 Mark H. Bogart Enrichment by preferential mitosis of fetal lymphocytes from a maternal blood sample
US5891734A (en) 1994-08-01 1999-04-06 Abbott Laboratories Method for performing automated analysis
US6025128A (en) 1994-09-29 2000-02-15 The University Of Tulsa Prediction of prostate cancer progression by analysis of selected predictive parameters
US6479235B1 (en) 1994-09-30 2002-11-12 Promega Corporation Multiplex amplification of short tandem repeat loci
US5648220A (en) 1995-02-14 1997-07-15 New England Medical Center Hospitals, Inc. Methods for labeling intracytoplasmic molecules
WO1996036736A2 (en) 1995-05-19 1996-11-21 Abbott Laboratories Wide dynamic range nucleic acid detection using an aggregate primer series
US6720140B1 (en) 1995-06-07 2004-04-13 Invitrogen Corporation Recombinational cloning using engineered recombination sites
US5733729A (en) 1995-09-14 1998-03-31 Affymetrix, Inc. Computer-aided probability base calling for arrays of nucleic acid probes on chips
US5854033A (en) 1995-11-21 1998-12-29 Yale University Rolling circle replication reporter systems
US5736033A (en) 1995-12-13 1998-04-07 Coleman; Charles M. Separator float for blood collection tubes with water swellable material
US6852487B1 (en) 1996-02-09 2005-02-08 Cornell Research Foundation, Inc. Detection of nucleic acid sequence differences using the ligase detection reaction with addressable arrays
EP0929694A4 (en) 1996-03-15 2002-05-02 Penn State Res Found DETECTION OF TUMOR-RELATED EXTRACELLULAR NUCLEIC ACID USING PLASMA OR BLOOD SERUM USING NUCLEIC ACID AMPLIFICATION TESTS
CA2250118C (en) 1996-03-26 2009-09-29 Michael S. Kopreski Method enabling use of extracellular rna extracted from plasma or serum to detect, monitor or evaluate cancer
US6108635A (en) 1996-05-22 2000-08-22 Interleukin Genetics, Inc. Integrated disease information system
US6100029A (en) 1996-08-14 2000-08-08 Exact Laboratories, Inc. Methods for the detection of chromosomal aberrations
US6300077B1 (en) 1996-08-14 2001-10-09 Exact Sciences Corporation Methods for the detection of nucleic acids
US6221654B1 (en) 1996-09-25 2001-04-24 California Institute Of Technology Method and apparatus for analysis and sorting of polynucleotides based on size
US5860917A (en) 1997-01-15 1999-01-19 Chiron Corporation Method and apparatus for predicting therapeutic outcomes
US5824467A (en) 1997-02-25 1998-10-20 Celtrix Pharmaceuticals Methods for predicting drug response
GB9704444D0 (en) 1997-03-04 1997-04-23 Isis Innovation Non-invasive prenatal diagnosis
US20010051341A1 (en) 1997-03-04 2001-12-13 Isis Innovation Limited Non-invasive prenatal diagnosis
ES2230631T3 (es) 1997-03-20 2005-05-01 F. Hoffmann-La Roche Ag Cebadores modificados.
EP2327797B1 (en) 1997-04-01 2015-11-25 Illumina Cambridge Limited Method of nucleic acid sequencing
US6143496A (en) 1997-04-17 2000-11-07 Cytonix Corporation Method of sampling, amplifying and quantifying segment of nucleic acid, polymerase chain reaction assembly having nanoliter-sized sample chambers, and method of filling assembly
US20020119478A1 (en) 1997-05-30 2002-08-29 Diagen Corporation Methods for detection of nucleic acid sequences in urine
US5994148A (en) 1997-06-23 1999-11-30 The Regents Of University Of California Method of predicting and enhancing success of IVF/ET pregnancy
US6833242B2 (en) 1997-09-23 2004-12-21 California Institute Of Technology Methods for detecting and sorting polynucleotides based on size
US6124120A (en) 1997-10-08 2000-09-26 Yale University Multiple displacement amplification
AR021833A1 (es) 1998-09-30 2002-08-07 Applied Research Systems Metodos de amplificacion y secuenciacion de acido nucleico
US6406671B1 (en) 1998-12-05 2002-06-18 Becton, Dickinson And Company Device and method for separating components of a fluid sample
EP1177281B1 (en) 1999-04-30 2009-01-21 Cyclops Genome Sciences Limited Isolation of nucleic acid
US6180349B1 (en) 1999-05-18 2001-01-30 The Regents Of The University Of California Quantitative PCR method to enumerate DNA copy number
US7058517B1 (en) 1999-06-25 2006-06-06 Genaissance Pharmaceuticals, Inc. Methods for obtaining and using haplotype data
US6964847B1 (en) 1999-07-14 2005-11-15 Packard Biosciences Company Derivative nucleic acids and uses thereof
GB9917307D0 (en) 1999-07-23 1999-09-22 Sec Dep Of The Home Department Improvements in and relating to analysis of DNA
EP1196623B8 (en) 1999-07-23 2008-05-21 Forensic Science Service Ltd Method for detecting single nucleotide polymorphisms
US6440706B1 (en) 1999-08-02 2002-08-27 Johns Hopkins University Digital amplification
US6251604B1 (en) 1999-08-13 2001-06-26 Genopsys, Inc. Random mutagenesis and amplification of nucleic acid
WO2001034844A1 (en) 1999-11-10 2001-05-17 Ligochem, Inc. Method for isolating dna from a proteinaceous medium and kit for performing method
US6221603B1 (en) 2000-02-04 2001-04-24 Molecular Dynamics, Inc. Rolling circle amplification assay for nucleic acid analysis
ATE492652T1 (de) 2000-02-07 2011-01-15 Illumina Inc Nukleinsäuredetektionsverfahren mit universellem priming
US7955794B2 (en) 2000-09-21 2011-06-07 Illumina, Inc. Multiplex nucleic acid reactions
US7510834B2 (en) 2000-04-13 2009-03-31 Hidetoshi Inoko Gene mapping method using microsatellite genetic polymorphism markers
GB0009179D0 (en) 2000-04-13 2000-05-31 Imp College Innovations Ltd Non-invasive prenatal diagnosis
US6828098B2 (en) 2000-05-20 2004-12-07 The Regents Of The University Of Michigan Method of producing a DNA library using positional amplification based on the use of adaptors and nick translation
CA2409774A1 (en) 2000-05-23 2001-11-29 Variagenics, Inc. Methods for genetic analysis of dna to detect sequence variances
US20030009295A1 (en) 2001-03-14 2003-01-09 Victor Markowitz System and method for retrieving and using gene expression data from multiple sources
US6605451B1 (en) 2000-06-06 2003-08-12 Xtrana, Inc. Methods and devices for multiplexing amplification reactions
US7087414B2 (en) 2000-06-06 2006-08-08 Applera Corporation Methods and devices for multiplexing amplification reactions
JP2004500867A (ja) 2000-06-07 2004-01-15 ベイラー　カレッジ　オブ　メディシン アレイ利用型核酸ハイブリダイゼーションのための新規な組成物および方法
US7058616B1 (en) 2000-06-08 2006-06-06 Virco Bvba Method and system for predicting resistance of a disease to a therapeutic agent using a neural network
GB0016742D0 (en) 2000-07-10 2000-08-30 Simeg Limited Diagnostic method
AU2002246612B2 (en) 2000-10-24 2007-11-01 The Board Of Trustees Of The Leland Stanford Junior University Direct multiplex characterization of genomic DNA
US20020107640A1 (en) 2000-11-14 2002-08-08 Ideker Trey E. Methods for determining the true signal of an analyte
WO2002055985A2 (en) 2000-11-15 2002-07-18 Roche Diagnostics Corp Methods and reagents for identifying rare fetal cells in the material circulation
WO2002044411A1 (en) 2000-12-01 2002-06-06 Rosetta Inpharmatics, Inc. Use of profiling for detecting aneuploidy
US7218764B2 (en) 2000-12-04 2007-05-15 Cytokinetics, Inc. Ploidy classification method
AR031640A1 (es) 2000-12-08 2003-09-24 Applied Research Systems Amplificacion isotermica de acidos nucleicos en un soporte solido
JP2002300894A (ja) 2001-02-01 2002-10-15 Inst Of Physical & Chemical Res 一塩基多型タイピング方法
US20020182622A1 (en) 2001-02-01 2002-12-05 Yusuke Nakamura Method for SNP (single nucleotide polymorphism) typing
WO2002070751A1 (en) 2001-03-02 2002-09-12 University Of Pittsburgh Of The Commonwealth System Of Higher Education Pcr method
AU2002238994A1 (en) 2001-03-23 2002-10-08 Center For Advanced Science And Technology Incubation, Ltd. Mononucleosome and process for producing the same, method of assaying antibody specific to nucleosome, method of diagnosing autoimmune disease, process for producing nucleosome dna, dna plate, process for producing dna plate and method of assaying anti-dna antibody
US6489135B1 (en) 2001-04-17 2002-12-03 Atairgintechnologies, Inc. Determination of biological characteristics of embryos fertilized in vitro by assaying for bioactive lipids in culture media
FR2824144B1 (fr) 2001-04-30 2004-09-17 Metagenex S A R L Methode de diagnostic prenatal sur cellule foetale isolee du sang maternel
US7392199B2 (en) 2001-05-01 2008-06-24 Quest Diagnostics Investments Incorporated Diagnosing inapparent diseases from common clinical tests using Bayesian analysis
US7262030B2 (en) 2001-05-09 2007-08-28 Virginia Commonwealth University Multiple sequencible and ligatible structures for genomic analysis
US20040126760A1 (en) 2001-05-17 2004-07-01 Natalia Broude Novel compositions and methods for carrying out multple pcr reactions on a single sample
US7026121B1 (en) 2001-06-08 2006-04-11 Expression Diagnostics, Inc. Methods and compositions for diagnosing and monitoring transplant rejection
EP1397512A2 (en) 2001-06-22 2004-03-17 University of Geneva Method for detecting diseases caused by chromosomal imbalances
US20030101000A1 (en) 2001-07-24 2003-05-29 Bader Joel S. Family based tests of association using pooled DNA and SNP markers
AU2002327308A1 (en) 2001-07-25 2003-02-17 Oncomedx Inc. Methods for evaluating pathologic conditions using extracellular rna
US7297778B2 (en) 2001-07-25 2007-11-20 Affymetrix, Inc. Complexity management of genomic DNA
US6958211B2 (en) 2001-08-08 2005-10-25 Tibotech Bvba Methods of assessing HIV integrase inhibitor therapy
JP2005501236A (ja) 2001-08-23 2005-01-13 イムニベスト・コーポレイション 分析用の細胞および生物学的検体の安定化
US6807491B2 (en) 2001-08-30 2004-10-19 Hewlett-Packard Development Company, L.P. Method and apparatus for combining gene predictions using bayesian networks
US6927028B2 (en) 2001-08-31 2005-08-09 Chinese University Of Hong Kong Non-invasive methods for detecting non-host DNA in a host using epigenetic differences between the host and non-host DNA
AUPR749901A0 (en) 2001-09-06 2001-09-27 Monash University Method of identifying chromosomal abnormalities and prenatal diagnosis
US7153656B2 (en) 2001-09-11 2006-12-26 Los Alamos National Security, Llc Nucleic acid sequence detection using multiplexed oligonucleotide PCR
US8986944B2 (en) 2001-10-11 2015-03-24 Aviva Biosciences Corporation Methods and compositions for separating rare cells from fluid samples
US20040014067A1 (en) 2001-10-12 2004-01-22 Third Wave Technologies, Inc. Amplification methods and compositions
EP1442139A4 (en) 2001-10-12 2005-01-26 Univ Queensland SELECTION AND AMPLIFICATION OF MULTIPLE GENETIC MARKERS
US6617137B2 (en) 2001-10-15 2003-09-09 Molecular Staging Inc. Method of amplifying whole genomes without subjecting the genome to denaturing conditions
US7297485B2 (en) 2001-10-15 2007-11-20 Qiagen Gmbh Method for nucleic acid amplification that results in low amplification bias
US7511704B2 (en) 2001-11-20 2009-03-31 Illinois Tool Works Inc. Acoustic wave touch bar system and method of use
US20030119004A1 (en) 2001-12-05 2003-06-26 Wenz H. Michael Methods for quantitating nucleic acids using coupled ligation and amplification
JP4229237B2 (ja) 2001-12-11 2009-02-25 株式会社ネーテック 血液細胞分離システム
US7198897B2 (en) 2001-12-19 2007-04-03 Brandeis University Late-PCR
ES2274861T3 (es) 2001-12-24 2007-06-01 Wolfgang Prof. Holzgreve Metodo para el diagnostico no-invasivo de transplantes y transfusiones.
US20040115629A1 (en) 2002-01-09 2004-06-17 Panzer Scott R Molecules for diagnostics and therapeutics
US20030211522A1 (en) 2002-01-18 2003-11-13 Landes Gregory M. Methods for fetal DNA detection and allele quantitation
US7035739B2 (en) 2002-02-01 2006-04-25 Rosetta Inpharmatics Llc Computer systems and methods for identifying genes and determining pathways associated with traits
MXPA04008477A (es) 2002-03-01 2005-10-26 Ravgen Inc Metodos para deteccion de trastornos geneticos.
US6977162B2 (en) 2002-03-01 2005-12-20 Ravgen, Inc. Rapid analysis of variations in a genome
US20060229823A1 (en) 2002-03-28 2006-10-12 Affymetrix, Inc. Methods and computer software products for analyzing genotyping data
US7211191B2 (en) 2004-09-30 2007-05-01 Thermogenesis Corp. Blood component separation method and apparatus
US7241281B2 (en) 2002-04-08 2007-07-10 Thermogenesis Corporation Blood component separation method and apparatus
US20030235848A1 (en) 2002-04-11 2003-12-25 Matt Neville Characterization of CYP 2D6 alleles
US20040096874A1 (en) 2002-04-11 2004-05-20 Third Wave Technologies, Inc. Characterization of CYP 2D6 genotypes
AU2003231244A1 (en) 2002-05-02 2003-11-17 University Of North Carolina At Chapel Hill In vitro mutagenesis, phenotyping, and gene mapping
US7727720B2 (en) 2002-05-08 2010-06-01 Ravgen, Inc. Methods for detection of genetic disorders
US20070178478A1 (en) 2002-05-08 2007-08-02 Dhallan Ravinder S Methods for detection of genetic disorders
US7442506B2 (en) 2002-05-08 2008-10-28 Ravgen, Inc. Methods for detection of genetic disorders
US20040009518A1 (en) 2002-05-14 2004-01-15 The Chinese University Of Hong Kong Methods for evaluating a disease condition by nucleic acid detection and fractionation
US20040229231A1 (en) 2002-05-28 2004-11-18 Frudakis Tony N. Compositions and methods for inferring ancestry
WO2003102595A1 (en) 2002-05-31 2003-12-11 Genetype Pty Ltd Maternal antibodies as fetal cell markers to identify and enrich fetal cells from maternal blood
AU2003243475A1 (en) 2002-06-13 2003-12-31 New York University Early noninvasive prenatal test for aneuploidies and heritable conditions
US7108976B2 (en) 2002-06-17 2006-09-19 Affymetrix, Inc. Complexity management of genomic DNA by locus specific amplification
US7097976B2 (en) 2002-06-17 2006-08-29 Affymetrix, Inc. Methods of analysis of allelic imbalance
US20050009069A1 (en) 2002-06-25 2005-01-13 Affymetrix, Inc. Computer software products for analyzing genotyping
AU2003247715B8 (en) 2002-06-28 2008-06-05 Orchid Cellmark Inc. Methods and compositions for analyzing compromised samples using single nucleotide polymorphism panels
EP1388812A1 (en) 2002-07-04 2004-02-11 Ronald E. Dr. Kates Method for training a learning-capable system
US20040117346A1 (en) 2002-09-20 2004-06-17 Kilian Stoffel Computer-based method and apparatus for repurposing an ontology
US7459273B2 (en) 2002-10-04 2008-12-02 Affymetrix, Inc. Methods for genotyping selected polymorphism
AU2003285861A1 (en) 2002-10-07 2004-05-04 University Of Medicine And Dentistry Of New Jersey High throughput multiplex dna sequence amplifications
US10229244B2 (en) 2002-11-11 2019-03-12 Affymetrix, Inc. Methods for identifying DNA copy number changes using hidden markov model based estimations
US7424368B2 (en) 2002-11-11 2008-09-09 Affymetix, Inc. Methods for identifying DNA copy number changes
JP2006508662A (ja) 2002-12-04 2006-03-16 アプレラ コーポレイション ポリヌクレオチドの多重増幅
PT2469077T (pt) 2003-01-02 2020-07-10 Wobben Properties Gmbh Sistema de energia eólica com uma pá de rotor
WO2004065617A2 (en) 2003-01-17 2004-08-05 The Trustees Of Boston University Haplotype analysis
WO2004065628A1 (en) 2003-01-21 2004-08-05 Guoliang Fu Quantitative multiplex detection of nucleic acids
US7575865B2 (en) 2003-01-29 2009-08-18 454 Life Sciences Corporation Methods of amplifying and sequencing nucleic acids
JP4480715B2 (ja) 2003-01-29 2010-06-16 ４５４ コーポレーション 二重末端シーケンシング
AU2004217872B2 (en) 2003-03-05 2010-03-25 Genetic Technologies Limited Identification of fetal DNA and fetal cell markers in maternal plasma or serum
US20040209299A1 (en) 2003-03-07 2004-10-21 Rubicon Genomics, Inc. In vitro DNA immortalization and whole genome amplification using libraries generated from randomly fragmented DNA
US20040197832A1 (en) 2003-04-03 2004-10-07 Mor Research Applications Ltd. Non-invasive prenatal genetic diagnosis using transcervical cells
WO2004099439A1 (en) 2003-05-09 2004-11-18 Tsinghua University Methods and compositions for optimizing multiplex pcr primers
US20050144664A1 (en) 2003-05-28 2005-06-30 Pioneer Hi-Bred International, Inc. Plant breeding method
US20040259100A1 (en) 2003-06-20 2004-12-23 Illumina, Inc. Methods and compositions for whole genome amplification and genotyping
DE602004019941D1 (de) 2003-07-31 2009-04-23 Sequenom Inc Verfahren für multiplex-polymerasekettenreaktionen auf hohem niveau und homogenen massenverlängerungsreaktionen zur genotypisierung von polymorphismen
US8346482B2 (en) 2003-08-22 2013-01-01 Fernandez Dennis S Integrated biosensor and simulation system for diagnosis and therapy
WO2005021793A1 (en) 2003-08-29 2005-03-10 Pantarhei Bioscience B.V. Prenatal diagnosis of down syndrome by detection of fetal rna markers in maternal blood
WO2005023091A2 (en) 2003-09-05 2005-03-17 The Trustees Of Boston University Method for non-invasive prenatal diagnosis
US20050053950A1 (en) 2003-09-08 2005-03-10 Enrique Zudaire Ubani Protocol and software for multiplex real-time PCR quantification based on the different melting temperatures of amplicons
JPWO2005028645A1 (ja) 2003-09-24 2007-11-15 株式会社産学連携機構九州 ＭＤＲ１遺伝子の５’制御領域におけるＳＮＰｓ
WO2005030999A1 (en) 2003-09-25 2005-04-07 Dana-Farber Cancer Institute, Inc Methods to detect lineage-specific cells
EP1689884A4 (en) 2003-10-08 2007-04-04 Univ Boston METHODS OF PRENATAL DIAGNOSIS OF CHROMOSOMIC ANOMALIES
CA2482097C (en) 2003-10-13 2012-02-21 F. Hoffmann-La Roche Ag Methods for isolating nucleic acids
ATE435301T1 (de) 2003-10-16 2009-07-15 Sequenom Inc Nicht invasiver nachweis fötaler genetischer merkmale
WO2005039389A2 (en) 2003-10-22 2005-05-06 454 Corporation Sequence-based karyotyping
EP1678329A4 (en) 2003-10-30 2008-07-02 Tufts New England Medical Ct PRENATAL DIAGNOSIS USING CELL-FREE FEDERAL DNA IN FRUIT WATER
US20050164252A1 (en) 2003-12-04 2005-07-28 Yeung Wah Hin A. Methods using non-genic sequences for the detection, modification and treatment of any disease or improvement of functions of a cell
EP1706488B1 (en) 2004-01-12 2013-07-24 Roche NimbleGen, Inc. Method of performing pcr amplification on a microarray
US20100216151A1 (en) 2004-02-27 2010-08-26 Helicos Biosciences Corporation Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities
US20100216153A1 (en) 2004-02-27 2010-08-26 Helicos Biosciences Corporation Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities
US20060046258A1 (en) 2004-02-27 2006-03-02 Lapidus Stanley N Applications of single molecule sequencing
US7035740B2 (en) 2004-03-24 2006-04-25 Illumina, Inc. Artificial intelligence and global normalization methods for genotyping
JP4437050B2 (ja) 2004-03-26 2010-03-24 株式会社日立製作所 診断支援システム、診断支援方法および診断支援サービスの提供方法
US7805282B2 (en) 2004-03-30 2010-09-28 New York University Process, software arrangement and computer-accessible medium for obtaining information associated with a haplotype
ATE450549T1 (de) 2004-03-31 2009-12-15 Adnagen Ag Monoklonale antikörper mit spezifität für fetale erythroidzellen
US7414118B1 (en) 2004-04-14 2008-08-19 Applied Biosystems Inc. Modified oligonucleotides and applications thereof
US7468249B2 (en) 2004-05-05 2008-12-23 Biocept, Inc. Detection of chromosomal disorders
US7709194B2 (en) 2004-06-04 2010-05-04 The Chinese University Of Hong Kong Marker for prenatal diagnosis and monitoring
KR20070034588A (ko) 2004-06-14 2007-03-28 더 보오드 오브 트러스티스 오브 더 유니버시티 오브 일리노이즈 Ｃｄ３４＋／ｃｄ３６＋ 태아 세포에는 결합하지만 성체세포에는 결합하지 않는 항체
WO2006002491A1 (en) 2004-07-06 2006-01-12 Genera Biosystems Pty Ltd Method of detecting aneuploidy
DE102004036285A1 (de) 2004-07-27 2006-02-16 Advalytix Ag Verfahren zum Bestimmen der Häufigkeit von Sequenzen einer Probe
WO2006020617A1 (en) 2004-08-09 2006-02-23 Generation Biotech, Llc Method for nucleic acid isolation and amplification
CA2577741A1 (en) 2004-08-18 2006-03-02 Abbott Molecular, Inc. Determining data quality and/or segmental aneusomy using a computer system
US7634808B1 (en) 2004-08-20 2009-12-15 Symantec Corporation Method and apparatus to block fast-spreading computer worms that use DNS MX record queries
JP4810164B2 (ja) 2004-09-03 2011-11-09 富士フイルム株式会社 核酸分離精製方法
US8024128B2 (en) 2004-09-07 2011-09-20 Gene Security Network, Inc. System and method for improving clinical decisions by aggregating, validating and analysing genetic and phenotypic data
US20060088574A1 (en) 2004-10-25 2006-04-27 Manning Paul B Nutritional supplements
US20060134662A1 (en) 2004-10-25 2006-06-22 Pratt Mark R Method and system for genotyping samples in a normalized allelic space
US9109256B2 (en) * 2004-10-27 2015-08-18 Esoterix Genetic Laboratories, Llc Method for monitoring disease progression or recurrence
WO2006055761A1 (en) 2004-11-17 2006-05-26 Mosaic Reproductive Health And Genetics, Llc Methods of determining human egg competency
US8389578B2 (en) 2004-11-24 2013-03-05 Adamas Pharmaceuticals, Inc Composition and method for treating neurological disease
US20070042384A1 (en) 2004-12-01 2007-02-22 Weiwei Li Method for isolating and modifying DNA from blood and body fluids
WO2006091979A2 (en) 2005-02-25 2006-08-31 The Regents Of The University Of California Full karyotype single cell chromosome analysis
US7618777B2 (en) 2005-03-16 2009-11-17 Agilent Technologies, Inc. Composition and method for array hybridization
JP5629051B2 (ja) 2005-03-18 2014-11-19 ザ チャイニーズ ユニバーシティー オブ ホンコンＴｈｅ Ｃｈｉｎｅｓｅ Ｕｎｉｖｅｒｓｉｔｙ Ｏｆ Ｈｏｎｇｋｏｎｇ 出生前診断およびモニタリングのためのマーカー
CN101137760B (zh) 2005-03-18 2011-01-26 香港中文大学 检测染色体非整倍性的方法
US20060228721A1 (en) 2005-04-12 2006-10-12 Leamon John H Methods for determining sequence variants using ultra-deep sequencing
ES2404311T3 (es) 2005-04-12 2013-05-27 454 Life Sciences Corporation Métodos para determinar variantes de secuencias usando secuenciación ultraprofunda
JP2008545418A (ja) 2005-05-27 2008-12-18 ジョン ウェイン キャンサー インスティチュート 癌の診断、予後診断、および治療のための遊離循環ｄｎａの使用
JP4879975B2 (ja) 2005-05-31 2012-02-22 アプライド バイオシステムズ リミテッド ライアビリティー カンパニー 短い核酸のマルチプレックス増幅
US7601499B2 (en) 2005-06-06 2009-10-13 454 Life Sciences Corporation Paired end sequencing
DK1907583T4 (da) 2005-06-15 2020-01-27 Complete Genomics Inc Enkeltmolekyle-arrays til genetisk og kemisk analyse
ATE489473T1 (de) 2005-07-15 2010-12-15 Life Technologies Corp Analyse von boten-rna und mikro-rna im gleichen reaktionsansatz
US20070020640A1 (en) 2005-07-21 2007-01-25 Mccloskey Megan L Molecular encoding of nucleic acid templates for PCR and other forms of sequence analysis
RU2290078C1 (ru) * 2005-07-25 2006-12-27 Евгений Владимирович Новичков Способ прогнозирования рецидива серозного рака яичников
US10081839B2 (en) 2005-07-29 2018-09-25 Natera, Inc System and method for cleaning noisy genetic data and determining chromosome copy number
US20070027636A1 (en) 2005-07-29 2007-02-01 Matthew Rabinowitz System and method for using genetic, phentoypic and clinical data to make predictions for clinical or lifestyle decisions
US11111544B2 (en) 2005-07-29 2021-09-07 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US10083273B2 (en) 2005-07-29 2018-09-25 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US8532930B2 (en) 2005-11-26 2013-09-10 Natera, Inc. Method for determining the number of copies of a chromosome in the genome of a target individual using genetic data from genetically related individuals
US8515679B2 (en) 2005-12-06 2013-08-20 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US20070178501A1 (en) 2005-12-06 2007-08-02 Matthew Rabinowitz System and method for integrating and validating genotypic, phenotypic and medical information into a database according to a standardized ontology
US9424392B2 (en) 2005-11-26 2016-08-23 Natera, Inc. System and method for cleaning noisy genetic data from target individuals using genetic data from genetically related individuals
US11111543B2 (en) 2005-07-29 2021-09-07 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
DK1924704T3 (da) 2005-08-02 2011-09-05 Rubicon Genomics Inc Sammensætninger og fremgangsmåder til bearbejdning og mangfoldiggørelse af DNA, herunder ved anvendelse af flere enzymer i en enkelt reaktion
US7884119B2 (en) 2005-09-07 2011-02-08 Rigel Pharmaceuticals, Inc. Triazole derivatives useful as Axl inhibitors
GB0522310D0 (en) 2005-11-01 2005-12-07 Solexa Ltd Methods of preparing libraries of template polynucleotides
US20090228299A1 (en) 2005-11-09 2009-09-10 The Regents Of The University Of California Methods and apparatus for context-sensitive telemedicine
GB0523276D0 (en) 2005-11-15 2005-12-21 London Bridge Fertility Chromosomal analysis by molecular karyotyping
ES2634665T3 (es) 2005-11-26 2017-09-28 Natera, Inc. Método y sistema para detectar anormalidades cromosómicas
WO2007070280A2 (en) 2005-12-02 2007-06-21 The General Hospital Corporation Use of deletion polymorphisms to predict, prevent, and manage histoincompatibility
WO2007070482A2 (en) 2005-12-14 2007-06-21 Xueliang Xia Microarray-based preimplantation genetic diagnosis of chromosomal abnormalities
JP5198284B2 (ja) 2005-12-22 2013-05-15 キージーン ナムローゼ フェンノートシャップ 高処理量配列決定技術を使用する転写産物の特徴づけのための改良された戦略
PL1981995T5 (pl) 2006-02-02 2019-10-31 Univ Leland Stanford Junior Nieinwazyjne genetyczne badania przesiewowe płodu metodą analizy cyfrowej
WO2007092538A2 (en) 2006-02-07 2007-08-16 President And Fellows Of Harvard College Methods for making nucleotide probes for sequencing and synthesis
WO2007091064A1 (en) 2006-02-08 2007-08-16 Solexa Limited End modification to prevent over-representation of fragments
EP2351858B1 (en) 2006-02-28 2014-12-31 University of Louisville Research Foundation Detecting fetal chromosomal abnormalities using tandem single nucleotide polymorphisms
US20100184043A1 (en) 2006-02-28 2010-07-22 University Of Louisville Research Foundation Detecting Genetic Abnormalities
CA2647280A1 (en) 2006-03-13 2007-09-20 Veridex, Llc Propagation of primary cells
WO2007112418A2 (en) 2006-03-28 2007-10-04 Baylor College Of Medicine Screening for down syndrome
JP2009072062A (ja) 2006-04-07 2009-04-09 Institute Of Physical & Chemical Research 核酸の５’末端を単離するための方法およびその適用
US20070243549A1 (en) 2006-04-12 2007-10-18 Biocept, Inc. Enrichment of circulating fetal dna
US7702468B2 (en) 2006-05-03 2010-04-20 Population Diagnostics, Inc. Evaluating genetic disorders
US7901884B2 (en) 2006-05-03 2011-03-08 The Chinese University Of Hong Kong Markers for prenatal diagnosis and monitoring
US7754428B2 (en) 2006-05-03 2010-07-13 The Chinese University Of Hong Kong Fetal methylation markers
EP2602321B1 (en) 2006-05-31 2017-08-23 Sequenom, Inc. Methods and compositions for the extraction and amplification of nucleic acid from a sample
US7981609B2 (en) 2006-06-09 2011-07-19 The Brigham And Women's Hospital, Inc. Methods for identifying and using SNP panels
EP2024513B1 (en) 2006-06-14 2016-10-19 Verinata Health, Inc Rare cell analysis using sample splitting and dna tags
WO2009035447A1 (en) 2006-06-14 2009-03-19 Living Microsystems, Inc. Diagnosis of fetal abnormalities by comparative genomic hybridization analysis
US20080070792A1 (en) 2006-06-14 2008-03-20 Roland Stoughton Use of highly parallel snp genotyping for fetal diagnosis
WO2007147076A2 (en) 2006-06-14 2007-12-21 Living Microsystems, Inc. Methods for the diagnosis of fetal abnormalities
EP2029778B1 (en) 2006-06-14 2018-05-02 Verinata Health, Inc Diagnosis of fetal abnormalities
US20080050739A1 (en) 2006-06-14 2008-02-28 Roland Stoughton Diagnosis of fetal abnormalities using polymorphisms including short tandem repeats
US8137912B2 (en) 2006-06-14 2012-03-20 The General Hospital Corporation Methods for the diagnosis of fetal abnormalities
US8372584B2 (en) 2006-06-14 2013-02-12 The General Hospital Corporation Rare cell analysis using sample splitting and DNA tags
US20080090239A1 (en) 2006-06-14 2008-04-17 Daniel Shoemaker Rare cell analysis using sample splitting and dna tags
WO2007149791A2 (en) 2006-06-15 2007-12-27 Stratagene System for isolating biomolecules from a sample
CN101501251A (zh) 2006-06-16 2009-08-05 塞昆纳姆股份有限公司 扩增、检测和定量样品中核酸的方法和组合物
US20080182244A1 (en) 2006-08-04 2008-07-31 Ikonisys, Inc. Pre-Implantation Genetic Diagnosis Test
CA2661640A1 (en) 2006-08-24 2008-02-28 University Of Massachusetts Medical School Mapping of genomic interactions
EP2064332B1 (en) 2006-09-14 2012-07-18 Ibis Biosciences, Inc. Targeted whole genome amplification method for identification of pathogens
US20080085836A1 (en) 2006-09-22 2008-04-10 Kearns William G Method for genetic testing of human embryos for chromosome abnormalities, segregating genetic disorders with or without a known mutation and mitochondrial disorders following in vitro fertilization (IVF), embryo culture and embryo biopsy
EP2094838A1 (en) 2006-10-16 2009-09-02 Cellula, Inc. Methods and compositions for differential expansion of fetal cells in maternal blood and their use
US20100184152A1 (en) 2006-10-23 2010-07-22 Vladislav Sandler Target-oriented whole genome amplification of nucleic acids
KR100825367B1 (ko) 2006-11-07 2008-04-28 전남대학교산학협력단 표지자로서 미토콘드리아 유전자 과변이부위를 이용하는조혈모세포이식 후 생착능 평가방법 및 키트
WO2008069906A2 (en) 2006-11-14 2008-06-12 The Regents Of The University Of California Digital expression of gene analysis
WO2008061213A2 (en) 2006-11-16 2008-05-22 Genentech, Inc. Genetic variations associated with tumors
WO2008059578A1 (fr) 2006-11-16 2008-05-22 Olympus Corporation Procédé d'amplification pcr multiplex
WO2008079374A2 (en) 2006-12-21 2008-07-03 Wang Eric T Methods and compositions for selecting and using single nucleotide polymorphisms
WO2008081451A2 (en) 2007-01-03 2008-07-10 Monaliza Medical Ltd. Methods and kits for analyzing genetic material of a fetus
US20080164204A1 (en) 2007-01-08 2008-07-10 Mehdi Hatamian Valve for facilitating and maintaining separation of fluids and materials
BRPI0806565A2 (pt) 2007-01-11 2014-05-06 Erasmus University Medical Center Captura de conformação de cromossomo circular
US20100129792A1 (en) 2007-02-06 2010-05-27 Gerassimos Makrigiorgos Direct monitoring and pcr amplification of the dosage and dosage difference between target genetic regions
WO2008098142A2 (en) 2007-02-08 2008-08-14 Sequenom, Inc. Nucleic acid-based tests for rhd typing, gender determination and nucleic acid quantification
JP2008209985A (ja) 2007-02-23 2008-09-11 Canon Inc データ処理装置、電子文書登録方法、及びコンピュータプログラム
EP2140386A2 (en) 2007-03-16 2010-01-06 Gene Security Network System and method for cleaning noisy genetic data and determining chromsome copy number
JP2010521156A (ja) 2007-03-16 2010-06-24 ４５４ ライフ サイエンシーズ コーポレイション Ｈｉｖ薬物耐性バリアントの検出のためのシステムおよび方法
CN101641452B (zh) 2007-03-26 2013-10-23 塞昆纳姆股份有限公司 限制性核酸内切酶增强的多态序列检测
JP5262230B2 (ja) 2007-03-28 2013-08-14 独立行政法人理化学研究所 新規多型検出法
ITTO20070307A1 (it) 2007-05-04 2008-11-05 Silicon Biosystems Spa Metodo e dispositivo per la diagnosi prenatale non-invasiva
CA2688155C (en) 2007-05-31 2020-02-11 The Regents Of The University Of California High specificity and high sensitivity detection based on steric hindrance & enzyme-related signal amplification
US8822153B2 (en) 2007-06-01 2014-09-02 The University Of North Carolina At Chapel Hill Molecular diagnosis and typing of lung cancer variants
WO2008157264A2 (en) 2007-06-15 2008-12-24 Sequenom, Inc. Combined methods for the detection of chromosomal aneuploidy
EP2171099A1 (en) 2007-06-20 2010-04-07 Taag-Genetics SA Nested multiplex amplification method for identification of multiple biological entities
US20090023190A1 (en) 2007-06-20 2009-01-22 Kai Qin Lao Sequence amplification with loopable primers
EP2162551B1 (en) 2007-07-03 2017-08-23 Genaphora LTD. Chimeric primers for improved nucleic acid amplification reactions
WO2009009769A2 (en) 2007-07-11 2009-01-15 Artemis Health, Inc. Diagnosis of fetal abnormalities using nucleated red blood cells
US20100112590A1 (en) 2007-07-23 2010-05-06 The Chinese University Of Hong Kong Diagnosing Fetal Chromosomal Aneuploidy Using Genomic Sequencing With Enrichment
KR102516709B1 (ko) 2007-07-23 2023-04-03 더 차이니즈 유니버시티 오브 홍콩 핵산 서열 불균형의 결정
KR101376359B1 (ko) 2007-08-01 2014-03-27 다나-파버 캔서 인스티튜트 인크. 표적 서열 강화
WO2009019215A1 (en) 2007-08-03 2009-02-12 Dkfz Deutsches Krebsforschungszentrum Method for prenatal diagnosis using exosomes and cd24 as a marker
US20090053719A1 (en) 2007-08-03 2009-02-26 The Chinese University Of Hong Kong Analysis of nucleic acids by digital pcr
WO2009032781A2 (en) 2007-08-29 2009-03-12 Sequenom, Inc. Methods and compositions for universal size-specific polymerase chain reaction
WO2009032779A2 (en) 2007-08-29 2009-03-12 Sequenom, Inc. Methods and compositions for the size-specific seperation of nucleic acid from a sample
US8748100B2 (en) 2007-08-30 2014-06-10 The Chinese University Of Hong Kong Methods and kits for selectively amplifying, detecting or quantifying target DNA with specific end sequences
MX2010002556A (es) 2007-09-07 2010-08-02 Fluidigm Corp Metodos y sistemas para determinar la variacion del numero de copia.
CA2697640C (en) 2007-09-21 2016-06-21 Katholieke Universiteit Leuven Tools and methods for genetic tests using next generation sequencing
EP2191012A1 (en) 2007-09-21 2010-06-02 Streck, Inc. Nucleic acid isolation in preserved whole blood
US20100086914A1 (en) 2008-10-03 2010-04-08 Roche Molecular Systems, Inc. High resolution, high throughput hla genotyping by clonal sequencing
CA2701411A1 (en) 2007-10-16 2009-04-23 F. Hoffmann-La Roche Ag High resolution, high throughput hla genotyping by clonal sequencing
WO2009064897A2 (en) 2007-11-14 2009-05-22 Chronix Biomedical Detection of nucleic acid sequence variations in circulating nucleic acid in bovine spongiform encephalopathy
CA2705267C (en) 2007-11-30 2018-07-31 Ge Healthcare Bio-Sciences Corp. Method for isolation of genomic dna, rna and proteins from a single sample
FR2925480B1 (fr) 2007-12-21 2011-07-01 Gervais Danone Sa Procede d'enrichissement d'une eau en oxygene par voie electrolytique, eau ou boisson enrichie en oxygene et utilisations
EP2077337A1 (en) 2007-12-26 2009-07-08 Eppendorf Array Technologies SA Amplification and detection composition, method and kit
US8852864B2 (en) 2008-01-17 2014-10-07 Sequenom Inc. Methods and compositions for the analysis of nucleic acids
EP2245191A1 (en) 2008-01-17 2010-11-03 Sequenom, Inc. Single molecule nucleic acid sequence analysis processes and compositions
ES2703363T3 (es) 2008-02-01 2019-03-08 Massachusetts Gen Hospital Uso de microvesículas en el diagnóstico y pronóstico de tumores cerebrales
EP2245198A1 (en) 2008-02-04 2010-11-03 Massachusetts Institute of Technology Selection of nucleic acids by solution hybridization to oligonucleotide baits
US20110033862A1 (en) 2008-02-19 2011-02-10 Gene Security Network, Inc. Methods for cell genotyping
US20090221620A1 (en) 2008-02-20 2009-09-03 Celera Corporation Gentic polymorphisms associated with stroke, methods of detection and uses thereof
AU2009223671B2 (en) 2008-03-11 2014-11-27 Sequenom, Inc. Nucleic acid-based tests for prenatal gender determination
CA2718887A1 (en) 2008-03-19 2009-09-24 Existence Genetics Llc Genetic analysis
US8206926B2 (en) 2008-03-26 2012-06-26 Sequenom, Inc. Restriction endonuclease enhanced polymorphic sequence detection
EP2274446B1 (en) 2008-03-31 2015-09-09 Pacific Biosciences of California, Inc. Two slow-step polymerase enzyme systems and methods
CN107385040B (zh) 2008-04-03 2022-02-15 艾瑞普特公司 用于扩增多个靶标的扩增子拯救多重聚合酶链式反应
US20110092763A1 (en) 2008-05-27 2011-04-21 Gene Security Network, Inc. Methods for Embryo Characterization and Comparison
EP2128169A1 (de) 2008-05-30 2009-12-02 Qiagen GmbH Verfahren zur Isolierung von kurzkettigen Nukleinsäuren
ES2754033T3 (es) 2008-07-21 2020-04-15 Becton Dickinson Co Dispositivo de separación de fase de densidad
JP5555453B2 (ja) 2008-07-24 2014-07-23 スリーエム イノベイティブ プロパティズ カンパニー 研磨材製品、その製造方法及び使用方法
US20100041048A1 (en) 2008-07-31 2010-02-18 The Johns Hopkins University Circulating Mutant DNA to Assess Tumor Dynamics
ES2620431T3 (es) 2008-08-04 2017-06-28 Natera, Inc. Métodos para la determinación de alelos y de ploidía
US8697363B2 (en) 2008-08-26 2014-04-15 Fluidigm Corporation Methods for detecting multiple target nucleic acids in multiple samples by use nucleotide tags
DE102008045705A1 (de) 2008-09-04 2010-04-22 Macherey, Nagel Gmbh & Co. Kg Handelsgesellschaft Verfahren zur Gewinnung von kurzer RNA sowie Kit hierfür
US8586310B2 (en) 2008-09-05 2013-11-19 Washington University Method for multiplexed nucleic acid patch polymerase chain reaction
JP5727375B2 (ja) 2008-09-16 2015-06-03 セクエノム， インコーポレイテッド 非侵襲性の出生前診断のために有用な、母体サンプル由来の胎児核酸のメチル化に基づく濃縮のためのプロセスおよび組成物
US8476013B2 (en) 2008-09-16 2013-07-02 Sequenom, Inc. Processes and compositions for methylation-based acid enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses
WO2010033652A1 (en) 2008-09-17 2010-03-25 Ge Healthcare Bio-Sciences Corp. Method for small rna isolation
ES2620012T3 (es) 2008-09-20 2017-06-27 The Board Of Trustees Of The Leland Stanford Junior University Diagnóstico no invasivo de la aneuploidia fetal por secuenciación
US9156010B2 (en) 2008-09-23 2015-10-13 Bio-Rad Laboratories, Inc. Droplet-based assay system
US20110301221A1 (en) 2008-10-10 2011-12-08 Swedish Health Services Diagnosis, prognosis and treatment of glioblastoma multiforme
WO2010045617A2 (en) 2008-10-17 2010-04-22 University Of Louisville Research Foundation Detecting genetic abnormalities
EP2364368B1 (en) 2008-11-07 2014-01-15 Sequenta, Inc. Methods of monitoring conditions by sequence analysis
US9506119B2 (en) 2008-11-07 2016-11-29 Adaptive Biotechnologies Corp. Method of sequence determination using sequence tags
US8748103B2 (en) 2008-11-07 2014-06-10 Sequenta, Inc. Monitoring health and disease status using clonotype profiles
JP2012513217A (ja) 2008-12-22 2012-06-14 セルラ・インコーポレイテッド 対立遺伝子、ゲノムおよびトランスクリプトームを検出する方法および遺伝子型決定パネル
US11634747B2 (en) 2009-01-21 2023-04-25 Streck Llc Preservation of fetal nucleic acids in maternal plasma
US8450063B2 (en) 2009-01-28 2013-05-28 Fluidigm Corporation Determination of copy number differences by amplification
ES2649572T3 (es) 2009-02-18 2018-01-12 Streck Inc. Conservación de ácidos nucleicos fuera de las células
CN103911428B (zh) 2009-03-27 2016-02-24 生命技术公司 用于检测等位基因变体的方法、组合物和试剂盒
DK2414547T3 (da) 2009-04-02 2014-06-16 Fluidigm Corp Multiprimer-amplifikationsmetode til stregkodning af målnukleinsyrer
US20100285537A1 (en) 2009-04-02 2010-11-11 Fluidigm Corporation Selective tagging of short nucleic acid fragments and selective protection of target sequences from degradation
EP3211095B1 (en) 2009-04-03 2019-01-02 Sequenom, Inc. Nucleic acid preparation compositions and methods
EP2417270B1 (en) 2009-04-06 2017-09-20 The Johns Hopkins University Digital quantification of dna methylation
US9085798B2 (en) 2009-04-30 2015-07-21 Prognosys Biosciences, Inc. Nucleic acid constructs and methods of use
US8481699B2 (en) 2009-07-14 2013-07-09 Academia Sinica Multiplex barcoded Paired-End ditag (mbPED) library construction for ultra high throughput sequencing
US20130196862A1 (en) 2009-07-17 2013-08-01 Natera, Inc. Informatics Enhanced Analysis of Fetal Samples Subject to Maternal Contamination
US8563242B2 (en) 2009-08-11 2013-10-22 The Chinese University Of Hong Kong Method for detecting chromosomal aneuploidy
CN101643904B (zh) 2009-08-27 2011-04-27 北京北方微电子基地设备工艺研究中心有限责任公司 深硅刻蚀装置和深硅刻蚀设备的进气系统
WO2011032078A1 (en) 2009-09-11 2011-03-17 Health Reseach Inc. Detection of x4 strains of hiv-1 by heteroduplex tracking assay
CN102575292B (zh) 2009-09-22 2015-07-29 霍夫曼-拉罗奇有限公司 与疾病相关的kir单元型的测定
AU2010298620B2 (en) 2009-09-24 2016-08-11 Qiagen Gaithersburg Inc. Compositions, methods, and kits for isolating and analyzing nucleic acids using an anion exchange material
WO2011041485A1 (en) 2009-09-30 2011-04-07 Gene Security Network, Inc. Methods for non-invasive prenatal ploidy calling
ES2564656T3 (es) 2009-10-26 2016-03-28 Lifecodexx Ag Medios y métodos para el diagnóstico no invasivo de la aneuploidía cromosómica
CA2779695C (en) 2009-11-05 2016-05-24 The Chinese University Of Hong Kong Fetal genomic analysis from a maternal biological sample
JP2013509883A (ja) 2009-11-06 2013-03-21 ザ ボード オブ トラスティーズ オブ ザ リーランド スタンフォード ジュニア ユニバーシティ 臓器移植患者における移植片拒絶反応の非侵襲的診断方法
WO2011057184A1 (en) 2009-11-09 2011-05-12 Streck, Inc. Stabilization of rna in and extracting from intact cells within a blood sample
WO2011066476A1 (en) 2009-11-25 2011-06-03 Quantalife, Inc. Methods and compositions for detecting genetic material
US20120251411A1 (en) 2009-12-07 2012-10-04 Min-Yong Jeon Centrifuge tube
WO2011072086A1 (en) 2009-12-08 2011-06-16 Hemaquest Pharmaceuticals, Inc. Methods and low dose regimens for treating red blood cell disorders
US8835358B2 (en) 2009-12-15 2014-09-16 Cellular Research, Inc. Digital counting of individual molecules by stochastic attachment of diverse labels
US9315857B2 (en) 2009-12-15 2016-04-19 Cellular Research, Inc. Digital counting of individual molecules by stochastic attachment of diverse label-tags
US8574842B2 (en) 2009-12-22 2013-11-05 The Board Of Trustees Of The Leland Stanford Junior University Direct molecular diagnosis of fetal aneuploidy
EP3660165B1 (en) 2009-12-22 2023-01-04 Sequenom, Inc. Processes and kits for identifying aneuploidy
CA2786916A1 (en) 2010-01-15 2011-07-21 The University Of British Columbia Multiplex amplification for the detection of nucleic acid variations
GB2485645B (en) 2010-01-19 2012-11-21 Verinata Health Inc Improved identification of partial aneuploidies using a normalising sequence
US20120010085A1 (en) 2010-01-19 2012-01-12 Rava Richard P Methods for determining fraction of fetal nucleic acids in maternal samples
US10388403B2 (en) 2010-01-19 2019-08-20 Verinata Health, Inc. Analyzing copy number variation in the detection of cancer
US9323888B2 (en) 2010-01-19 2016-04-26 Verinata Health, Inc. Detecting and classifying copy number variation
US20120270739A1 (en) 2010-01-19 2012-10-25 Verinata Health, Inc. Method for sample analysis of aneuploidies in maternal samples
US20110312503A1 (en) 2010-01-23 2011-12-22 Artemis Health, Inc. Methods of fetal abnormality detection
WO2011100057A2 (en) 2010-02-09 2011-08-18 Eugene Spier Methods and compositions for universal detection of nucleic acids
DK2539472T3 (da) 2010-02-26 2015-08-24 Hennessy Lori Hurtig pcr til str genotypebestemmelse
JP5808349B2 (ja) 2010-03-01 2015-11-10 カリス ライフ サイエンシズ スウィッツァーランド ホールディングスゲーエムベーハー セラノーシスのためのバイオマーカー
EP2551356B1 (en) 2010-03-24 2017-06-14 Toppan Printing Co., Ltd. Method for detecting target base sequence using competitive primer
US9255291B2 (en) 2010-05-06 2016-02-09 Bioo Scientific Corporation Oligonucleotide ligation methods for improving data quality and throughput using massively parallel sequencing
WO2011140433A2 (en) 2010-05-07 2011-11-10 The Board Of Trustees Of The Leland Stanford Junior University Measurement and comparison of immune diversity by high-throughput sequencing
US20140186827A1 (en) 2010-05-14 2014-07-03 Fluidigm, Inc. Assays for the detection of genotype, mutations, and/or aneuploidy
WO2011143659A2 (en) 2010-05-14 2011-11-17 Fluidigm Corporation Nucleic acid isolation methods
US11322224B2 (en) 2010-05-18 2022-05-03 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US9677118B2 (en) 2014-04-21 2017-06-13 Natera, Inc. Methods for simultaneous amplification of target loci
US11332785B2 (en) 2010-05-18 2022-05-17 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US20190284623A1 (en) 2010-05-18 2019-09-19 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US20190309358A1 (en) 2010-05-18 2019-10-10 Natera, Inc. Methods for non-invasive prenatal ploidy calling
EP2854057B1 (en) 2010-05-18 2018-03-07 Natera, Inc. Methods for non-invasive pre-natal ploidy calling
WO2013052557A2 (en) 2011-10-03 2013-04-11 Natera, Inc. Methods for preimplantation genetic diagnosis by sequencing
US11939634B2 (en) 2010-05-18 2024-03-26 Natera, Inc. Methods for simultaneous amplification of target loci
US10316362B2 (en) 2010-05-18 2019-06-11 Natera, Inc. Methods for simultaneous amplification of target loci
US11339429B2 (en) 2010-05-18 2022-05-24 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US20190323076A1 (en) 2010-05-18 2019-10-24 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US11326208B2 (en) 2010-05-18 2022-05-10 Natera, Inc. Methods for nested PCR amplification of cell-free DNA
US20130123120A1 (en) 2010-05-18 2013-05-16 Natera, Inc. Highly Multiplex PCR Methods and Compositions
US20140206552A1 (en) 2010-05-18 2014-07-24 Natera, Inc. Methods for preimplantation genetic diagnosis by sequencing
US11408031B2 (en) 2010-05-18 2022-08-09 Natera, Inc. Methods for non-invasive prenatal paternity testing
US11332793B2 (en) 2010-05-18 2022-05-17 Natera, Inc. Methods for simultaneous amplification of target loci
US20190010543A1 (en) 2010-05-18 2019-01-10 Natera, Inc. Methods for simultaneous amplification of target loci
US20110301854A1 (en) 2010-06-08 2011-12-08 Curry Bo U Method of Determining Allele-Specific Copy Number of a SNP
US20120190557A1 (en) 2011-01-25 2012-07-26 Aria Diagnostics, Inc. Risk calculation for evaluation of fetal aneuploidy
US8700338B2 (en) 2011-01-25 2014-04-15 Ariosa Diagnosis, Inc. Risk calculation for evaluation of fetal aneuploidy
US20120034603A1 (en) 2010-08-06 2012-02-09 Tandem Diagnostics, Inc. Ligation-based detection of genetic variants
US20130040375A1 (en) 2011-08-08 2013-02-14 Tandem Diagnotics, Inc. Assay systems for genetic analysis
EP2426217A1 (en) 2010-09-03 2012-03-07 Centre National de la Recherche Scientifique (CNRS) Analytical methods for cell free nucleic acids and applications
WO2012042374A2 (en) 2010-10-01 2012-04-05 Anssi Jussi Nikolai Taipale Method of determining number or concentration of molecules
WO2012058316A1 (en) 2010-10-26 2012-05-03 Stanford University Non-invasive fetal genetic screening by sequencing analysis
CN103328654B (zh) 2010-10-27 2017-07-11 哈佛学院院长等 立足点引物双链体的组合物及其使用方法
KR102185244B1 (ko) 2010-11-30 2020-12-02 더 차이니즈 유니버시티 오브 홍콩 암과 연관된 유전적 또는 분자적 이상들의 검출
EP2649199A2 (en) 2010-12-07 2013-10-16 Stanford University Non-invasive determination of fetal inheritance of parental haplotypes at the genome-wide scale
WO2012083250A2 (en) 2010-12-17 2012-06-21 Celula, Inc. Methods for screening and diagnosing genetic conditions
AU2011348100B2 (en) 2010-12-22 2016-08-25 Natera, Inc. Methods for non-invasive prenatal paternity testing
KR20210131432A (ko) 2010-12-30 2021-11-02 파운데이션 메디신 인코포레이티드 종양 샘플의 다유전자 분석의 최적화
US20120190021A1 (en) 2011-01-25 2012-07-26 Aria Diagnostics, Inc. Detection of genetic abnormalities
RU2671980C2 (ru) 2011-02-09 2018-11-08 Натера, Инк. Способы неинвазивного пренатального установления плоидности
EP3760732A1 (en) 2011-02-09 2021-01-06 Natera, Inc. Methods for non-invasive prenatal ploidy calling
GB2488358A (en) 2011-02-25 2012-08-29 Univ Plymouth Enrichment of foetal DNA in maternal plasma
WO2012129363A2 (en) 2011-03-24 2012-09-27 President And Fellows Of Harvard College Single cell nucleic acid detection and analysis
JP5863946B2 (ja) 2011-04-12 2016-02-17 ベリナタ ヘルス インコーポレイテッド 多型カウントを用いたゲノム画分の分析
AU2011365507A1 (en) * 2011-04-14 2013-05-02 Verinata Health, Inc. Normalizing chromosomes for the determination and verification of common and rare chromosomal aneuploidies
EP2754078A4 (en) 2011-04-14 2015-12-02 Complete Genomics Inc PROCESSING AND ANALYSIS OF COMPLEX NUCLEIC ACID SEQUENCE DATA
EP2697397B1 (en) 2011-04-15 2017-04-05 The Johns Hopkins University Safe sequencing system
US9411937B2 (en) * 2011-04-15 2016-08-09 Verinata Health, Inc. Detecting and classifying copy number variation
US9957558B2 (en) 2011-04-28 2018-05-01 Life Technologies Corporation Methods and compositions for multiplex PCR
US8460872B2 (en) 2011-04-29 2013-06-11 Sequenom, Inc. Quantification of a minority nucleic acid species
EP2546361B1 (en) 2011-07-11 2015-06-03 Samsung Electronics Co., Ltd. Method of amplifying target nucleic acid with reduced amplification bias and method for determining relative amount of target nucleic acid in sample
US20130024127A1 (en) 2011-07-19 2013-01-24 John Stuelpnagel Determination of source contributions using binomial probability calculations
GB201115095D0 (en) 2011-09-01 2011-10-19 Singapore Volition Pte Ltd Method for detecting nucleosomes containing nucleotides
US8712697B2 (en) 2011-09-07 2014-04-29 Ariosa Diagnostics, Inc. Determination of copy number variations using binomial probability calculations
CA2848304A1 (en) 2011-09-09 2013-03-14 The Board Of Trustees Of The Leland Stanford Junior University Methods for sequencing a polynucleotide
JP5536729B2 (ja) 2011-09-20 2014-07-02 株式会社ソニー・コンピュータエンタテインメント 情報処理装置、アプリケーション提供システム、アプリケーション提供サーバ、アプリケーション提供方法、および情報処理方法
ES2693672T3 (es) 2011-09-26 2018-12-13 Qiagen Gmbh Método rápido para aislar ácidos nucleicos extracelulares
US9367663B2 (en) 2011-10-06 2016-06-14 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP2764458B1 (en) 2011-10-06 2021-04-07 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US9984198B2 (en) 2011-10-06 2018-05-29 Sequenom, Inc. Reducing sequence read count error in assessment of complex genetic variations
AU2012321053B2 (en) 2011-10-07 2018-04-19 Murdoch Childrens Research Institute Diagnostic assay for tissue transplantation status
WO2013078470A2 (en) 2011-11-22 2013-05-30 MOTIF, Active Multiplex isolation of protein-associated nucleic acids
WO2013086352A1 (en) 2011-12-07 2013-06-13 Chronix Biomedical Prostate cancer associated circulating nucleic acid biomarkers
WO2013086464A1 (en) * 2011-12-07 2013-06-13 The Broad Institute, Inc. Markers associated with chronic lymphocytic leukemia prognosis and progression
US20130190653A1 (en) 2012-01-25 2013-07-25 Angel Gabriel Alvarez Ramos Device for blood collection from the placenta and the umbilical cord
EP2814986B1 (en) 2012-02-14 2017-10-25 Cornell University Method for relative quantification of nucleic acid sequence, expression, or copy changes, using combined nuclease, ligation, and polymerase reactions
EP3287531B1 (en) 2012-02-28 2019-06-19 Agilent Technologies, Inc. Method for attaching a counter sequence to a nucleic acid sample
WO2013130848A1 (en) * 2012-02-29 2013-09-06 Natera, Inc. Informatics enhanced analysis of fetal samples subject to maternal contamination
US9892230B2 (en) 2012-03-08 2018-02-13 The Chinese University Of Hong Kong Size-based analysis of fetal or tumor DNA fraction in plasma
EP2825675B1 (en) 2012-03-13 2017-12-27 Patel, Abhijit Ajit Measurement of nucleic acid variants using highly-multiplexed error-suppressed deep sequencing
US10385396B2 (en) 2012-04-19 2019-08-20 The Medical College Of Wisconsin, Inc. Highly sensitive surveillance using detection of cell free DNA
EP2653562A1 (en) 2012-04-20 2013-10-23 Institut Pasteur Anellovirus genome quantification as a biomarker of immune suppression
US9487828B2 (en) 2012-05-10 2016-11-08 The General Hospital Corporation Methods for determining a nucleotide sequence contiguous to a known target nucleotide sequence
AU2013266394B2 (en) 2012-05-21 2019-03-14 The Scripps Research Institute Methods of sample preparation
US9920361B2 (en) 2012-05-21 2018-03-20 Sequenom, Inc. Methods and compositions for analyzing nucleic acid
CN104350152B (zh) 2012-06-01 2017-08-11 欧米伽生物技术公司 选择性核酸片段回收
US11261494B2 (en) * 2012-06-21 2022-03-01 The Chinese University Of Hong Kong Method of measuring a fractional concentration of tumor DNA
WO2014004726A1 (en) 2012-06-26 2014-01-03 Caifu Chen Methods, compositions and kits for the diagnosis, prognosis and monitoring of cancer
US20150011396A1 (en) 2012-07-09 2015-01-08 Benjamin G. Schroeder Methods for creating directional bisulfite-converted nucleic acid libraries for next generation sequencing
CA2878246C (en) 2012-07-20 2022-01-11 Verinata Health, Inc. Detecting and classifying copy number variation in a cancer genome
EP2877598A1 (en) * 2012-07-24 2015-06-03 Pharmacyclics, Inc. Mutations associated with resistance to inhibitors of bruton's tyrosine kinase (btk)
CA2877493C (en) * 2012-07-24 2020-08-25 Natera, Inc. Highly multiplex pcr methods and compositions
US10993418B2 (en) 2012-08-13 2021-05-04 Life Genetics Lab, Llc Method for measuring tumor burden in patient derived xenograft (PDX) mice
JP2015528443A (ja) * 2012-08-15 2015-09-28 ユニヴェルシテ・ドゥ・モントリオール 新規マイナー組織適合抗原を同定するための方法
US20140051585A1 (en) 2012-08-15 2014-02-20 Natera, Inc. Methods and compositions for reducing genetic library contamination
US20140100126A1 (en) 2012-08-17 2014-04-10 Natera, Inc. Method for Non-Invasive Prenatal Testing Using Parental Mosaicism Data
WO2014035986A1 (en) 2012-08-28 2014-03-06 Akonni Biosystems Inc. Method and kit for purifying nucleic acids
US20140066317A1 (en) 2012-09-04 2014-03-06 Guardant Health, Inc. Systems and methods to detect rare mutations and copy number variation
US10876152B2 (en) 2012-09-04 2020-12-29 Guardant Health, Inc. Systems and methods to detect rare mutations and copy number variation
US20140065621A1 (en) 2012-09-04 2014-03-06 Natera, Inc. Methods for increasing fetal fraction in maternal blood
CA2883901C (en) 2012-09-04 2023-04-11 Guardant Health, Inc. Systems and methods to detect rare mutations and copy number variation
CN107892719B (zh) 2012-10-04 2022-01-14 达纳－法伯癌症研究所公司 人单克隆抗-pd-l1抗体和使用方法
US9669405B2 (en) 2012-10-22 2017-06-06 The Regents Of The University Of California Sterilizable photopolymer serum separator
EP2728014B1 (en) 2012-10-31 2015-10-07 Genesupport SA Non-invasive method for detecting a fetal chromosomal aneuploidy
US20220307086A1 (en) 2012-11-21 2022-09-29 Natera, Inc. Methods for simultaneous amplification of target loci
EP2943590A4 (en) 2013-01-13 2017-02-15 Unitaq Bio Methods and compositions for pcr using blocked and universal primers
WO2014122288A1 (en) 2013-02-08 2014-08-14 Qiagen Gmbh Method for separating dna by size
US9982255B2 (en) 2013-03-11 2018-05-29 Kailos Genetics, Inc. Capture methodologies for circulating cell free DNA
CA2902167A1 (en) 2013-03-15 2014-09-25 Abbott Molecular Inc. Method for amplification and assay of rna fusion gene variants, method of distinguishing same and related primers, probes, and kits
US10385394B2 (en) 2013-03-15 2019-08-20 The Translational Genomics Research Institute Processes of identifying and characterizing X-linked disorders
CA3156663A1 (en) 2013-03-15 2014-09-18 Verinata Health, Inc. Generating cell-free dna libraries directly from blood
EP3882362B1 (en) 2013-03-15 2024-05-08 Guardant Health, Inc. Methods for sequencing of cell free polynucleotides
EP2971152B1 (en) 2013-03-15 2018-08-01 The Board Of Trustees Of The Leland Stanford Junior University Identification and use of circulating nucleic acid tumor markers
MX2015012733A (es) 2013-03-15 2016-06-21 Immucor Gti Diagnostics Inc Metodos y composiciones para evaluar el estado renal usando adn libre de celulas de la orina.
US10072298B2 (en) 2013-04-17 2018-09-11 Life Technologies Corporation Gene fusions and gene variants associated with cancer
LT3004388T (lt) 2013-05-29 2019-01-25 Chronix Biomedical Donoro ne ląstelinės dnr aptikimas ir jos kiekio nustatymas organo transplantanto recipientų apytakoje
US10577655B2 (en) 2013-09-27 2020-03-03 Natera, Inc. Cell free DNA diagnostic testing standards
US11694764B2 (en) 2013-09-27 2023-07-04 University Of Washington Method for large scale scaffolding of genome assemblies
WO2015048535A1 (en) 2013-09-27 2015-04-02 Natera, Inc. Prenatal diagnostic resting standards
IL285106B (en) 2013-11-07 2022-09-01 Univ Leland Stanford Junior Clean nucleic acids are suitable for analyzing the human microbiome and its parts
DK3077539T3 (en) 2013-12-02 2018-11-19 Personal Genome Diagnostics Inc Procedure for evaluating minority variations in a sample
EP3524694B1 (en) 2013-12-28 2020-07-15 Guardant Health, Inc. Methods and systems for detecting genetic variants
SG11201605344YA (en) 2013-12-30 2016-07-28 Atreca Inc Analysis of nucleic acids associated with single cells using nucleic acid barcodes
CN106661612A (zh) 2014-01-27 2017-05-10 通用医疗公司 制备用于测序的核酸的方法
JP6494045B2 (ja) 2014-02-11 2019-04-03 エフ．ホフマン−ラ ロシュ アーゲーＦ． Ｈｏｆｆｍａｎｎ−Ｌａ Ｒｏｃｈｅ Ａｋｔｉｅｎｇｅｓｅｌｌｓｃｈａｆｔ 標的シーケンシングおよびｕｉｄフィルタリング
EP3114231B1 (en) 2014-03-03 2019-01-02 Swift Biosciences, Inc. Enhanced adaptor ligation
PL3117012T3 (pl) 2014-03-14 2019-08-30 Caredx, Inc. Sposoby monitorowania terapii immunosupresyjnych u biorcy przeszczepu
EP3825421B1 (en) 2014-03-25 2022-06-22 Quest Diagnostics Investments Incorporated Detection of gene fusions by intragenic differential expression (ide) using average cycle thresholds
WO2015164432A1 (en) 2014-04-21 2015-10-29 Natera, Inc. Detecting mutations and ploidy in chromosomal segments
CN113774132A (zh) 2014-04-21 2021-12-10 纳特拉公司 检测染色体片段中的突变和倍性
US20180173846A1 (en) 2014-06-05 2018-06-21 Natera, Inc. Systems and Methods for Detection of Aneuploidy
EP3161149B1 (en) 2014-06-27 2020-06-10 INSERM (Institut National de la Santé et de la Recherche Médicale) Methods employing circulating dna and mirna as biomarkers for female infertility
EP3164489B1 (en) 2014-07-03 2020-05-13 Rhodx, Inc. Tagging and assessing a target sequence
AU2015289027B2 (en) 2014-07-17 2021-08-19 Qiagen Gmbh Method for isolating RNA with high yield
GB201412834D0 (en) 2014-07-18 2014-09-03 Cancer Rec Tech Ltd A method for detecting a genetic variant
CA2955367C (en) 2014-07-18 2021-11-30 Illumina, Inc. Non-invasive prenatal diagnosis of fetal genetic condition using cellular dna and cell free dna
AU2015330844B2 (en) 2014-10-08 2022-02-03 Cornell University Method for identification and quantification of nucleic acid expression, splice variant, translocation, copy number, or methylation changes
EP3209797B1 (en) 2014-10-20 2018-12-05 INSERM (Institut National de la Santé et de la Recherche Médicale) Methods for screening a subject for a cancer
CN107405540A (zh) 2014-10-24 2017-11-28 雅培分子公司 小核酸的富集
EP3218519B1 (en) 2014-11-11 2020-12-02 BGI Shenzhen Multi-pass sequencing
EP3227462B1 (en) 2014-12-01 2020-04-22 The Broad Institute, Inc. Method for in situ determination of nucleic acid proximity
WO2016109604A2 (en) 2014-12-29 2016-07-07 InnoGenomics Technologies, LLC Multiplexed assay for quantitating and assessing integrity of cell-free dna in biological fluids for cancer diagnosis, prognosis, and surveillance
GB201501907D0 (en) 2015-02-05 2015-03-25 Technion Res & Dev Foundation System and method for single cell genetic analysis
WO2016123698A1 (en) 2015-02-06 2016-08-11 Uti Limited Partnership Diagnostic assay for post-transplant assessment of potential rejection of donor organs
WO2016138080A1 (en) 2015-02-24 2016-09-01 Trustees Of Boston University Protection of barcodes during dna amplification using molecular hairpins
ES2906221T3 (es) 2015-02-27 2022-04-13 Becton Dickinson Co Métodos para el marcado con códigos de barras de ácidos nucleicos para secuenciación
ES2934982T3 (es) 2015-03-30 2023-02-28 Becton Dickinson Co Métodos para la codificación con códigos de barras combinatorios
KR101850437B1 (ko) 2015-04-14 2018-04-20 이원다이애그노믹스(주) 차세대 염기서열 분석기법을 이용한 장기 이식 거부 반응 예측 방법
EP3286326A1 (en) 2015-04-23 2018-02-28 Cellular Research, Inc. Methods and compositions for whole transcriptome amplification
US10844428B2 (en) 2015-04-28 2020-11-24 Illumina, Inc. Error suppression in sequenced DNA fragments using redundant reads with unique molecular indices (UMIS)
US20180142296A1 (en) 2015-04-30 2018-05-24 Medical College Of Wisconsin, Inc. Multiplexed optimized mismatch amplification (moma)-real time pcr for assessing cell-free dna
WO2016183106A1 (en) 2015-05-11 2016-11-17 Natera, Inc. Methods and compositions for determining ploidy
US20180291365A1 (en) 2015-06-05 2018-10-11 Qiagen Gmbh Method for separating dna by size
US20160371428A1 (en) 2015-06-19 2016-12-22 Natera, Inc. Systems and methods for determining aneuploidy risk using sample fetal fraction
GB201516047D0 (en) 2015-09-10 2015-10-28 Cancer Rec Tech Ltd Method
US20180282796A1 (en) 2015-09-29 2018-10-04 Ludwig Institute For Cancer Research Ltd Typing and Assembling Discontinuous Genomic Elements
AU2016341198B2 (en) 2015-10-19 2023-03-09 Dovetail Genomics, Llc Methods for genome assembly, haplotype phasing, and target independent nucleic acid detection
WO2017079593A1 (en) 2015-11-04 2017-05-11 Atreca, Inc. Combinatorial sets of nucleic acid barcodes for analysis of nucleic acids associated with single cells
US20170145475A1 (en) 2015-11-20 2017-05-25 Streck, Inc. Single spin process for blood plasma separation and plasma composition including preservative
CN105986030A (zh) 2016-02-03 2016-10-05 广州市基准医疗有限责任公司 甲基化dna检测方法
EP4071250A1 (en) 2016-03-22 2022-10-12 Myriad Women's Health, Inc. Combinatorial dna screening
WO2017173039A1 (en) 2016-03-30 2017-10-05 Covaris, Inc. Extraction of cfdna from biological samples
CA3057717A1 (en) 2016-04-01 2017-10-05 Uti Limited Partnership Plasma derived cell-free mitochondrial deoxyribonucleic acid
EP3443066A4 (en) 2016-04-14 2019-12-11 Guardant Health, Inc. EARLY DETECTION METHODS FOR CANCER
ES2913468T3 (es) 2016-04-15 2022-06-02 Natera Inc Métodos para la detección del cáncer de pulmón.
WO2017190106A1 (en) 2016-04-29 2017-11-02 Medical College Of Wisconsin, Inc. Multiplexed optimized mismatch amplification (moma)-target number
EP3910068A1 (en) 2016-05-24 2021-11-17 The Translational Genomics Research Institute Molecular tagging methods and sequencing libraries
EP3464626B1 (en) 2016-05-27 2022-04-06 Sequenom, Inc. Methods for detecting genetic variations
US20190185913A1 (en) 2016-07-01 2019-06-20 Natera, Inc. Compositions and methods for detection of nucleic acid mutations
BR112019000296A2 (pt) 2016-07-06 2019-04-16 Guardant Health, Inc. métodos para a determinação de perfil de fragmentome de ácidos nucleicos livres de célula
US11485996B2 (en) 2016-10-04 2022-11-01 Natera, Inc. Methods for characterizing copy number variation using proximity-litigation sequencing
EP3535413A1 (en) 2016-11-02 2019-09-11 The Medical College of Wisconsin, Inc. Methods for assessing risk using total and specific cell-free dna
GB201618485D0 (en) 2016-11-02 2016-12-14 Ucl Business Plc Method of detecting tumour recurrence
US11107021B2 (en) 2016-11-06 2021-08-31 Microsoft Technology Licensing, Llc Presenting and manipulating task items
CN117056774A (zh) 2016-11-08 2023-11-14 贝克顿迪金森公司 用于细胞标记分类的方法
US10011870B2 (en) 2016-12-07 2018-07-03 Natera, Inc. Compositions and methods for identifying nucleic acid molecules
US10920273B2 (en) 2017-01-17 2021-02-16 Life Technologies Corporation Compositions and methods for immune repertoire sequencing
WO2018156418A1 (en) 2017-02-21 2018-08-30 Natera, Inc. Compositions, methods, and kits for isolating nucleic acids
CN110945144A (zh) 2017-06-20 2020-03-31 威斯康星州立大学医学院 利用无细胞dna的移植患者监测
CA3067634A1 (en) 2017-06-20 2018-12-27 The Medical College Of Wisconsin, Inc. Assessing conditions in transplant subjects using donor-specific cell-free dna
WO2018237075A1 (en) 2017-06-20 2018-12-27 The Medical College Of Wisconsin, Inc. ASSESSING THE RISK OF GRAFT COMPLICATION WITH TOTAL ACELLULAR DNA
MX2020001575A (es) 2017-08-07 2020-11-18 Univ Johns Hopkins Materiales y métodos para evaluar y tratar el cáncer.
EP3676399B1 (en) 2017-09-01 2022-05-11 Life Technologies Corporation Compositions and methods for immune repertoire sequencing
US11091800B2 (en) 2017-09-20 2021-08-17 University Of Utah Research Foundation Size-selection of cell-free DNA for increasing family size during next-generation sequencing
US20210269879A1 (en) 2017-12-14 2021-09-02 Tai Diagnostics, Inc. Assessing graft suitability for transplantation
CN111699269A (zh) 2018-01-12 2020-09-22 纳特拉公司 新引物及其用途
WO2019161244A1 (en) 2018-02-15 2019-08-22 Natera, Inc. Methods for isolating nucleic acids with size selection
GB201819134D0 (en) 2018-11-23 2019-01-09 Cancer Research Tech Ltd Improvements in variant detection
JP2021520816A (ja) 2018-04-14 2021-08-26 ナテラ， インコーポレイテッド 循環腫瘍ｄｎａの個別化された検出を用いる癌検出およびモニタリングの方法
EP3807884A1 (en) 2018-06-12 2021-04-21 Natera, Inc. Methods and systems for calling mutations
BR112020027023A2 (pt) 2018-07-03 2021-04-06 Natera, Inc. Métodos para detecção de dna livre de células derivado de doador
US11525159B2 (en) 2018-07-03 2022-12-13 Natera, Inc. Methods for detection of donor-derived cell-free DNA
BR112021000409A2 (pt) 2018-07-12 2021-04-06 Twinstrand Biosciences, Inc. Métodos e reagentes para caracterizar edição genômica, expansão clonal e aplicações associadas
EP3824470A1 (en) 2018-07-17 2021-05-26 Natera, Inc. Methods and systems for calling ploidy states using a neural network
WO2020041449A1 (en) 2018-08-21 2020-02-27 Zymo Research Corporation Methods and compositions for tracking sample quality
WO2020076957A1 (en) 2018-10-09 2020-04-16 Tai Diagnostics, Inc. Cell lysis assay for cell-free dna analysis
WO2020106897A1 (en) 2018-11-20 2020-05-28 Alex Brandt Methods and materials for detecting salmonella in beef
BR112021009706A2 (pt) 2018-11-21 2021-08-17 Karius, Inc. detecção e predição de doença infecciosa
EP3899030A2 (en) 2018-12-17 2021-10-27 Natera, Inc. Methods for analysis of circulating cells
US11931674B2 (en) 2019-04-04 2024-03-19 Natera, Inc. Materials and methods for processing blood samples
WO2020214547A1 (en) 2019-04-15 2020-10-22 Natera, Inc. Improved liquid biopsy using size selection
WO2020247263A1 (en) 2019-06-06 2020-12-10 Natera, Inc. Methods for detecting immune cell dna and monitoring immune system
WO2021055968A1 (en) 2019-09-20 2021-03-25 Natera Inc. Methods for assessing graft suitability for transplantation
CA3180334A1 (en) 2020-05-29 2021-12-02 Natera, Inc. Methods for detection of donor-derived cell-free dna
US20230257816A1 (en) 2020-07-13 2023-08-17 Aoy Tomita Mitchell Methods for making treatment management decisions in transplant subjects and assessing transplant risks with threshold values
WO2022197864A1 (en) 2021-03-18 2022-09-22 Natera, Inc. Methods for determination of transplant rejection

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