JP2017524374A5 - - Google Patents
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- JP2017524374A5 JP2017524374A5 JP2017515036A JP2017515036A JP2017524374A5 JP 2017524374 A5 JP2017524374 A5 JP 2017524374A5 JP 2017515036 A JP2017515036 A JP 2017515036A JP 2017515036 A JP2017515036 A JP 2017515036A JP 2017524374 A5 JP2017524374 A5 JP 2017524374A5
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Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201462005877P | 2014-05-30 | 2014-05-30 | |
| US62/005,877 | 2014-05-30 | ||
| PCT/US2015/033403 WO2015184404A1 (en) | 2014-05-30 | 2015-05-29 | Detecting fetal sub-chromosomal aneuploidies and copy number variations |
Publications (3)
| Publication Number | Publication Date |
|---|---|
| JP2017524374A JP2017524374A (ja) | 2017-08-31 |
| JP2017524374A5 true JP2017524374A5 (enExample) | 2018-07-05 |
| JP6659672B2 JP6659672B2 (ja) | 2020-03-04 |
Family
ID=53373661
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2017515036A Expired - Fee Related JP6659672B2 (ja) | 2014-05-30 | 2015-05-29 | 胎児染色体部分異数性およびコピー数変動の検出 |
Country Status (10)
| Country | Link |
|---|---|
| US (2) | US10318704B2 (enExample) |
| EP (2) | EP3149199B1 (enExample) |
| JP (1) | JP6659672B2 (enExample) |
| KR (1) | KR102566176B1 (enExample) |
| CN (1) | CN106795558B (enExample) |
| AU (1) | AU2015266665C1 (enExample) |
| BR (1) | BR112016027848A2 (enExample) |
| CA (1) | CA2950596C (enExample) |
| IL (1) | IL249095B2 (enExample) |
| WO (1) | WO2015184404A1 (enExample) |
Families Citing this family (44)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| GB2484764B (en) | 2011-04-14 | 2012-09-05 | Verinata Health Inc | Normalizing chromosomes for the determination and verification of common and rare chromosomal aneuploidies |
| 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 |
| CA2928185C (en) | 2013-10-21 | 2024-01-30 | Verinata Health, Inc. | Method for improving the sensitivity of detection in determining copy number variations |
| EP3149199B1 (en) | 2014-05-30 | 2020-03-25 | Verinata Health, Inc. | Detecting, optionally fetal, sub-chromosomal aneuploidies and copy number variations |
| KR102696857B1 (ko) * | 2014-07-25 | 2024-08-19 | 유니버시티 오브 워싱톤 | 무세포 dna를 생성하는 조직 및/또는 세포 유형을 결정하는 방법 및 이를 사용하여 질환 또는 장애를 확인하는 방법 |
| CN107750277B (zh) * | 2014-12-12 | 2021-11-09 | 维里纳塔健康股份有限公司 | 使用无细胞dna片段大小来确定拷贝数变化 |
| 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 |
| US10395759B2 (en) | 2015-05-18 | 2019-08-27 | Regeneron Pharmaceuticals, Inc. | Methods and systems for copy number variant detection |
| BE1023266B1 (nl) * | 2015-07-13 | 2017-01-17 | Cartagenia N.V. | Systeem en methodologie voor de analyse van genomische gegevens die zijn verkregen van een onderwerp |
| EP3347466B9 (en) | 2015-09-08 | 2024-06-26 | Cold Spring Harbor Laboratory | Genetic copy number determination using high throughput multiplex sequencing of smashed nucleotides |
| CN117174167A (zh) * | 2015-12-17 | 2023-12-05 | 夸登特健康公司 | 通过分析无细胞dna确定肿瘤基因拷贝数的方法 |
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| AU2017218149B2 (en) * | 2016-02-12 | 2020-09-03 | Regeneron Pharmaceuticals, Inc. | Methods and systems for detection of abnormal karyotypes |
| US20190287645A1 (en) * | 2016-07-06 | 2019-09-19 | Guardant Health, Inc. | Methods for fragmentome profiling of cell-free nucleic acids |
| KR102610098B1 (ko) * | 2016-07-06 | 2023-12-04 | 가던트 헬쓰, 인크. | 무세포 핵산의 프래그멘톰 프로파일링을 위한 방법 |
| CA3214358A1 (en) * | 2016-09-22 | 2018-03-29 | Illumina, Inc | Somatic copy number variation detection |
| US11342047B2 (en) | 2017-04-21 | 2022-05-24 | Illumina, Inc. | Using cell-free DNA fragment size to detect tumor-associated variant |
| WO2018227211A1 (en) * | 2017-06-09 | 2018-12-13 | Bellwether Bio, Inc. | Diagnosis of cancer or other physiological condition using circulating nucleic acid fragment sentinel endpoints |
| EP3635133A4 (en) * | 2017-06-09 | 2021-03-03 | Bellwether Bio, Inc. | DETERMINATION OF THE TYPE OF CANCER IN A SUBJECT BY PROBABILISTIC MODELING OF END POINTS OF CIRCULATING NUCLEIC ACID FRAGMENT |
| JP7316270B2 (ja) * | 2017-06-19 | 2023-07-27 | インビタエ コーポレイション | 統合算出および実験的深層変異学習フレームワークを介した遺伝子およびゲノム変異体の解釈 |
| WO2019034576A1 (en) * | 2017-08-18 | 2019-02-21 | Koninklijke Philips N.V. | METHODS OF SEQUENCING BIOMOLECULES |
| WO2019046804A1 (en) * | 2017-09-01 | 2019-03-07 | Grail, Inc. | IDENTIFICATION OF FALSE POSITIVE VARIANTS USING A MODEL OF IMPORTANCE |
| US12020779B1 (en) * | 2017-09-06 | 2024-06-25 | Myriad Women's Health, Inc. | Noninvasive prenatal screening using dynamic iterative depth optimization with depth-scaled variance determination |
| CN108733982B (zh) * | 2017-09-26 | 2021-02-19 | 上海凡迪基因科技有限公司 | 孕妇nipt结果校正方法、装置及计算机可读存储介质、设备 |
| AU2018367488B2 (en) | 2017-11-16 | 2021-09-16 | Illumina, Inc. | Systems and methods for determining microsatellite instability |
| US11728007B2 (en) * | 2017-11-30 | 2023-08-15 | Grail, Llc | Methods and systems for analyzing nucleic acid sequences using mappability analysis and de novo sequence assembly |
| US12154661B2 (en) * | 2018-03-22 | 2024-11-26 | The Regents Of The University Of Michigan | Method and apparatus for analysis of chromatin interaction data |
| WO2019209884A1 (en) * | 2018-04-23 | 2019-10-31 | Grail, Inc. | Methods and systems for screening for conditions |
| EP3795692A4 (en) * | 2018-05-07 | 2021-07-21 | GeneMind Biosciences Company Limited | METHOD, DEVICE AND SYSTEM FOR DETECTION OF CHROMOSOMAL ANEUPLOIDY |
| CN109030801B (zh) * | 2018-06-02 | 2021-08-20 | 宏葵生物(中国)股份有限公司 | 一种临床样本自动生化分析仪 |
| CN109117703B (zh) * | 2018-06-13 | 2022-03-22 | 中山大学中山眼科中心 | 一种基于细粒度识别的混杂细胞种类鉴定方法 |
| DE102018219483A1 (de) * | 2018-11-15 | 2020-05-20 | Robert Bosch Gmbh | Verfahren und Vorrichtung zur Analyse von biologischem Material |
| KR102287096B1 (ko) * | 2019-01-04 | 2021-08-09 | 테라젠지놈케어 주식회사 | 모체 시료 중 태아 분획을 결정하는 방법 |
| WO2020150258A1 (en) * | 2019-01-15 | 2020-07-23 | Luminist, Inc. | Methods and systems for detecting liver disease |
| AU2020296108B2 (en) | 2019-06-21 | 2023-08-03 | Coopersurgical, Inc. | Systems and methods for determining pattern of inheritance in embryos |
| US20210147925A1 (en) * | 2019-11-14 | 2021-05-20 | Bio-Rad Laboratories, Inc. | Partition-based determination of target copy number for single cells by non-endpoint amplification |
| US12252745B2 (en) | 2021-09-02 | 2025-03-18 | Enumerix, Inc. | Detection and digital quantitation of multiple targets |
| US20240185955A1 (en) * | 2021-11-23 | 2024-06-06 | Chromatintech Beijing Co, Ltd | Method for generating an enhanced hi-c matrix, non-transitory computer readable medium storing a program for generating an enhanced hi-c matrix, method for identifying a structural chromatin aberration in an enhanced hi-c matrix, and methods for diagnosing and treating a medical condition or disease |
| WO2023129936A1 (en) * | 2021-12-29 | 2023-07-06 | AiOnco, Inc. | System and method for text-based biological information processing with analysis refinement |
| US11947551B2 (en) * | 2022-05-27 | 2024-04-02 | Maplebear Inc. | Automated sampling of query results for training of a query engine |
| WO2024129969A1 (en) * | 2022-12-14 | 2024-06-20 | Illumina, Inc. | Systems and methods for capture and enrichment of clustered beads on flow cell substrates |
| CN116825189A (zh) * | 2023-06-29 | 2023-09-29 | 赛纳生物科技(北京)有限公司 | 一种2+2测序的信号校正方法 |
| CN117331850B (zh) * | 2023-12-01 | 2024-03-15 | 云筑信息科技(成都)有限公司 | 一种将功能测试和接口自动化测试结合的测试方法 |
Family Cites Families (43)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US20100216153A1 (en) | 2004-02-27 | 2010-08-26 | Helicos Biosciences Corporation | Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities |
| CA2615323A1 (en) | 2005-06-06 | 2007-12-21 | 454 Life Sciences Corporation | Paired end sequencing |
| EP2081442B1 (en) | 2006-10-10 | 2016-08-10 | TrovaGene, Inc. | Compositions, methods and kits for isolating nucleic acids from body fluids using anion exchange media |
| US8262900B2 (en) | 2006-12-14 | 2012-09-11 | Life Technologies Corporation | Methods and apparatus for measuring analytes using large scale FET arrays |
| KR102222378B1 (ko) | 2007-07-23 | 2021-03-04 | 더 차이니즈 유니버시티 오브 홍콩 | 핵산 서열 불균형의 결정 |
| EA201000427A1 (ru) | 2007-10-04 | 2010-10-29 | Хэлсион Молекулар | Секвенирование нуклеиново-кислотных полимеров с использованием электронной микроскопии |
| WO2009051842A2 (en) | 2007-10-18 | 2009-04-23 | The Johns Hopkins University | Detection of cancer by measuring genomic copy number and strand length in cell-free dna |
| CA2737643C (en) | 2008-09-20 | 2020-10-06 | Hei-Mun Fan | Noninvasive diagnosis of fetal aneuploidy by sequencing |
| WO2011054936A1 (en) | 2009-11-06 | 2011-05-12 | The Chinese University Of Hong Kong | Size-based genomic analysis |
| CA2786565C (en) | 2010-01-19 | 2017-04-25 | Verinata Health, Inc. | Partition defined detection methods |
| US9323888B2 (en) | 2010-01-19 | 2016-04-26 | Verinata Health, Inc. | Detecting and classifying copy number variation |
| US9260745B2 (en) | 2010-01-19 | 2016-02-16 | Verinata Health, Inc. | Detecting and classifying copy number variation |
| US20120046877A1 (en) | 2010-07-06 | 2012-02-23 | Life Technologies Corporation | Systems and methods to detect copy number variation |
| US9029103B2 (en) | 2010-08-27 | 2015-05-12 | Illumina Cambridge Limited | Methods for sequencing polynucleotides |
| US8725422B2 (en) | 2010-10-13 | 2014-05-13 | Complete Genomics, Inc. | Methods for estimating genome-wide copy number variations |
| KR101891847B1 (ko) | 2010-11-30 | 2018-08-24 | 더 차이니즈 유니버시티 오브 홍콩 | 암과 연관된 유전적 또는 분자적 이상들의 검출 |
| US9411937B2 (en) * | 2011-04-15 | 2016-08-09 | Verinata Health, Inc. | Detecting and classifying copy number variation |
| DK2716766T3 (da) | 2011-05-31 | 2017-01-02 | Berry Genomics Co Ltd | Indretning til detektering af kopiantal af føtale kromosomer eller tumorcellekromosomer |
| RU2589681C2 (ru) | 2011-06-29 | 2016-07-10 | БиДжиАй Дженомикс Ко., Лтд. | Неинвазивное обнаружение генетической аномалии плода |
| CA2840418C (en) * | 2011-07-26 | 2019-10-29 | Verinata Health, Inc. | Method for determining the presence or absence of different aneuploidies in a sample |
| US9367663B2 (en) | 2011-10-06 | 2016-06-14 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| WO2013052913A2 (en) | 2011-10-06 | 2013-04-11 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| HUE047193T2 (hu) * | 2011-12-31 | 2020-04-28 | Bgi Genomics Co Ltd | Módszer genetikai variáció kimutatására |
| AU2013209499B2 (en) * | 2012-01-20 | 2018-05-10 | Sequenom, Inc. | Diagnostic processes that factor experimental conditions |
| 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 |
| WO2013138527A1 (en) | 2012-03-13 | 2013-09-19 | The Chinese University Of Hong Kong | Methods for analyzing massively parallel sequencing data for noninvasive prenatal diagnosis |
| CN108485940B (zh) * | 2012-04-12 | 2022-01-28 | 维里纳塔健康公司 | 拷贝数变异的检测和分类 |
| US10504613B2 (en) | 2012-12-20 | 2019-12-10 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US9920361B2 (en) | 2012-05-21 | 2018-03-20 | Sequenom, Inc. | Methods and compositions for analyzing nucleic acid |
| CA2878246C (en) | 2012-07-20 | 2022-01-11 | Verinata Health, Inc. | Detecting and classifying copy number variation in a cancer genome |
| US20140066317A1 (en) | 2012-09-04 | 2014-03-06 | Guardant Health, Inc. | Systems and methods to detect rare mutations and copy number variation |
| EP4036247B1 (en) * | 2012-09-04 | 2024-04-10 | Guardant Health, Inc. | Methods to detect rare mutations and copy number variation |
| WO2014052855A1 (en) | 2012-09-27 | 2014-04-03 | Population Diagnostics, Inc. | Methods and compositions for screening and treating developmental disorders |
| GB2528205B (en) | 2013-03-15 | 2020-06-03 | Guardant Health Inc | Systems and methods to detect rare mutations and copy number variation |
| US20140371078A1 (en) | 2013-06-17 | 2014-12-18 | Verinata Health, Inc. | Method for determining copy number variations in sex chromosomes |
| KR102784584B1 (ko) | 2013-06-21 | 2025-03-19 | 시쿼넘, 인코포레이티드 | 유전적 변이의 비침습 평가를 위한 방법 및 프로세스 |
| CA2928185C (en) * | 2013-10-21 | 2024-01-30 | Verinata Health, Inc. | Method for improving the sensitivity of detection in determining copy number variations |
| US10415083B2 (en) | 2013-10-28 | 2019-09-17 | The Translational Genomics Research Institute | Long insert-based whole genome sequencing |
| EP3149199B1 (en) | 2014-05-30 | 2020-03-25 | Verinata Health, Inc. | Detecting, optionally fetal, sub-chromosomal aneuploidies and copy number variations |
| CN107750277B (zh) | 2014-12-12 | 2021-11-09 | 维里纳塔健康股份有限公司 | 使用无细胞dna片段大小来确定拷贝数变化 |
| US10368909B2 (en) | 2015-02-26 | 2019-08-06 | Titan Medical Inc. | Apparatus for providing access for a surgical procedure |
| US10095831B2 (en) | 2016-02-03 | 2018-10-09 | Verinata Health, Inc. | Using cell-free DNA fragment size to determine copy number variations |
| US11342047B2 (en) | 2017-04-21 | 2022-05-24 | Illumina, Inc. | Using cell-free DNA fragment size to detect tumor-associated variant |
-
2015
- 2015-05-29 EP EP15728356.5A patent/EP3149199B1/en active Active
- 2015-05-29 EP EP20164915.9A patent/EP3690061B1/en active Active
- 2015-05-29 JP JP2017515036A patent/JP6659672B2/ja not_active Expired - Fee Related
- 2015-05-29 IL IL249095A patent/IL249095B2/en unknown
- 2015-05-29 AU AU2015266665A patent/AU2015266665C1/en not_active Ceased
- 2015-05-29 KR KR1020167036900A patent/KR102566176B1/ko active Active
- 2015-05-29 BR BR112016027848A patent/BR112016027848A2/pt not_active IP Right Cessation
- 2015-05-29 CA CA2950596A patent/CA2950596C/en active Active
- 2015-05-29 US US14/726,183 patent/US10318704B2/en active Active
- 2015-05-29 CN CN201580041925.3A patent/CN106795558B/zh not_active Expired - Fee Related
- 2015-05-29 WO PCT/US2015/033403 patent/WO2015184404A1/en not_active Ceased
-
2019
- 2019-04-25 US US16/395,066 patent/US12217827B2/en active Active
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