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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JP2017524374A (ja
JP6659672B2 (ja
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JP2017515036A 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 Expired - Fee Related JP6659672B2 (ja)

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

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JP2017524374A JP2017524374A (ja) 2017-08-31
JP2017524374A5 true JP2017524374A5 (enExample) 2018-07-05
JP6659672B2 JP6659672B2 (ja) 2020-03-04

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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

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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)

* Cited by examiner, † Cited by third party
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
US10095831B2 (en) * 2016-02-03 2018-10-09 Verinata Health, Inc. Using cell-free DNA fragment size to determine copy number variations
WO2017139492A1 (en) * 2016-02-09 2017-08-17 Toma Biosciences, Inc. Systems and methods for analyzing nucelic acids
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)

* Cited by examiner, † Cited by third party
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

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