JP2017524374A5 - - Google Patents

Download PDF

Info

Publication number
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
Authority
JP
Japan
Prior art keywords
sequence
coverage
bins
interest
test sample
Prior art date
Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
Granted
Application number
JP2017515036A
Other languages
English (en)
Japanese (ja)
Other versions
JP6659672B2 (ja
JP2017524374A (ja
Filing date
Publication date
Application filed filed Critical
Priority claimed from PCT/US2015/033403 external-priority patent/WO2015184404A1/en
Publication of JP2017524374A publication Critical patent/JP2017524374A/ja
Publication of JP2017524374A5 publication Critical patent/JP2017524374A5/ja
Application granted granted Critical
Publication of JP6659672B2 publication Critical patent/JP6659672B2/ja
Expired - Fee Related legal-status Critical Current
Anticipated expiration legal-status Critical

Links

Images

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

Publications (3)

Publication Number Publication Date
JP2017524374A JP2017524374A (ja) 2017-08-31
JP2017524374A5 true JP2017524374A5 (https=) 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 (https=)
EP (2) EP3149199B1 (https=)
JP (1) JP6659672B2 (https=)
KR (1) KR102566176B1 (https=)
CN (1) CN106795558B (https=)
AU (1) AU2015266665C1 (https=)
BR (1) BR112016027848A2 (https=)
CA (1) CA2950596C (https=)
IL (1) IL249095B2 (https=)
WO (1) WO2015184404A1 (https=)

Families Citing this family (47)

* 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
KR102429186B1 (ko) 2013-10-21 2022-08-03 베리나타 헬스, 인코포레이티드 사본수 변동을 결정함에 있어서 검출의 감수성을 향상시키기 위한 방법
CA2950596C (en) 2014-05-30 2023-10-31 Verinata Health, Inc. Detecting fetal sub-chromosomal aneuploidies and copy number variations
CN107002122B (zh) * 2014-07-25 2023-09-19 华盛顿大学 确定导致无细胞dna的产生的组织和/或细胞类型的方法以及使用其鉴定疾病或紊乱的方法
EP3502273B1 (en) * 2014-12-12 2020-07-08 Verinata Health, Inc. Cell-free dna fragment
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
WO2017044609A1 (en) 2015-09-08 2017-03-16 Cold Spring Harbor Laboratory Genetic copy number determination using high throughput multiplex sequencing of smashed nucleotides
WO2017106768A1 (en) * 2015-12-17 2017-06-22 Guardant Health, Inc. Methods to determine tumor gene copy number by analysis of cell-free dna
US10095831B2 (en) * 2016-02-03 2018-10-09 Verinata Health, Inc. Using cell-free DNA fragment size to determine copy number variations
JP2019511070A (ja) * 2016-02-09 2019-04-18 トマ・バイオサイエンシズ，インコーポレーテッド 核酸を解析するシステムおよび方法
CA3014292A1 (en) * 2016-02-12 2017-08-17 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
MX2019003344A (es) * 2016-09-22 2019-09-04 Illumina Inc Deteccion de variacion de numero de copias somaticas.
US11342047B2 (en) 2017-04-21 2022-05-24 Illumina, Inc. Using cell-free DNA fragment size to detect tumor-associated variant
WO2018227202A1 (en) * 2017-06-09 2018-12-13 Bellwether Bio, Inc. Determination of cancer type in a subject by probabilistic modeling of circulating nucleic acid fragment endpoints
EP3635134A4 (en) * 2017-06-09 2021-03-03 Bellwether Bio, Inc. DIAGNOSTIC CANCER OR OTHER PHYSIOLOGICAL CONDITIONS USING CIRCULATING NUCLEIC ACID FRAGMENT SENTINEL END POINTS
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
EP3669369A1 (en) * 2017-08-18 2020-06-24 Koninklijke Philips N.V. Methods for 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
NZ759171A (en) 2017-11-16 2022-05-27 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
US12590326B2 (en) 2018-01-10 2026-03-31 Guardant Health, Inc. Methods for fragmentome profiling of cell-free nucleic acids
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
US11455570B2 (en) * 2019-01-15 2022-09-27 Ebay Inc. Machine learning-based infrastructure anomaly and incident detection using multi-dimensional machine metrics
CN114303202A (zh) 2019-06-21 2022-04-08 酷博尔外科器械有限公司 用于确定胚胎中遗传模式的系统和方法
CN115698317A (zh) * 2019-10-22 2023-02-03 基因胚胎组学私人有限公司 用于筛查ivf胚胎的方法
EP4058185A4 (en) * 2019-11-14 2023-11-29 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
WO2023092303A1 (en) * 2021-11-23 2023-06-01 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
US11935627B2 (en) * 2021-12-29 2024-03-19 Mujin, 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
EP4634400A1 (en) * 2022-12-14 2025-10-22 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
US7601499B2 (en) 2005-06-06 2009-10-13 454 Life Sciences Corporation Paired end sequencing
US9163229B2 (en) 2006-10-10 2015-10-20 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
LT2557517T (lt) 2007-07-23 2023-01-10 The Chinese University Of Hong Kong Nukleino rūgščių sekos disbalanso nustatymas
AU2008308457A1 (en) 2007-10-04 2009-04-09 Halcyon Molecular Sequencing nucleic acid polymers with electron microscopy
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
HUE031848T2 (en) 2008-09-20 2017-08-28 Univ Leland Stanford Junior Non-invasive diagnosis of fetal aneuploidy by sequencing
EA034241B1 (ru) 2009-11-06 2020-01-21 Те Чайниз Юниверсити Ов Гонконг Способ пренатальной диагностики дисбаланса последовательности
US9260745B2 (en) 2010-01-19 2016-02-16 Verinata Health, Inc. Detecting and classifying copy number variation
EP2526415B1 (en) 2010-01-19 2017-05-03 Verinata Health, Inc Partition defined detection methods
US9323888B2 (en) 2010-01-19 2016-04-26 Verinata Health, Inc. Detecting and classifying copy number variation
WO2012006291A2 (en) 2010-07-06 2012-01-12 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
MX349568B (es) 2010-11-30 2017-08-03 Univ Hong Kong Chinese Deteccion de aberraciones geneticas o moleculares asociadas con el cancer.
US9411937B2 (en) 2011-04-15 2016-08-09 Verinata Health, Inc. Detecting and classifying copy number variation
JP5926795B2 (ja) 2011-05-31 2016-05-25 ベリー ジェノミクス カンパニー リミテッドＢｅｒｒｙ Ｇｅｎｏｍｉｃｓ Ｃｏ．， Ｌｔｄ． 胎芽又は腫瘍染色体のコピー数を検出するシステム及び装置
DK2561103T3 (da) * 2011-06-29 2014-10-20 Bgi Diagnosis Co Ltd Ikke-invasiv påvisning af føtal genetisk anomali
JP6161607B2 (ja) * 2011-07-26 2017-07-12 ベリナタ ヘルス インコーポレイテッド サンプルにおける異なる異数性の有無を決定する方法
ES2886508T3 (es) 2011-10-06 2021-12-20 Sequenom Inc Métodos y procedimientos para la evaluación no invasiva de variaciones genéticas
US9367663B2 (en) 2011-10-06 2016-06-14 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US20140370504A1 (en) * 2011-12-31 2014-12-18 Bgi Diagnosis Co., Ltd. Method for detecting genetic variation
WO2013109981A1 (en) * 2012-01-20 2013-07-25 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
JP6411995B2 (ja) 2012-03-13 2018-10-24 ザ チャイニーズ ユニバーシティー オブ ホンコン 非侵襲的出生前診断のために大量並列シークエンシング・データを分析する方法
CN103374518B (zh) * 2012-04-12 2018-03-27 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
GB2533006B (en) * 2012-09-04 2017-06-07 Guardant Health Inc Systems and methods to detect copy number variation
US20140066317A1 (en) 2012-09-04 2014-03-06 Guardant Health, Inc. Systems and methods to detect rare mutations and copy number variation
US10233495B2 (en) 2012-09-27 2019-03-19 The Hospital For Sick Children 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
WO2014204991A1 (en) 2013-06-17 2014-12-24 Verinata Health, Inc. Method for determining copy number variations in sex chromosomes
HUE042654T2 (hu) 2013-06-21 2019-07-29 Sequenom Inc Eljárás genetikai variációk nem-invazív megállapítására
KR102429186B1 (ko) 2013-10-21 2022-08-03 베리나타 헬스, 인코포레이티드 사본수 변동을 결정함에 있어서 검출의 감수성을 향상시키기 위한 방법
US10415083B2 (en) 2013-10-28 2019-09-17 The Translational Genomics Research Institute Long insert-based whole genome sequencing
CA2950596C (en) 2014-05-30 2023-10-31 Verinata Health, Inc. Detecting fetal sub-chromosomal aneuploidies and copy number variations
EP3502273B1 (en) 2014-12-12 2020-07-08 Verinata Health, Inc. Cell-free dna fragment
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

Similar Documents

Publication Publication Date Title
JP2017524374A5 (https=)
EP3622524B1 (en) Variant classifier based on deep neural networks
JP2016539630A5 (https=)
US6681186B1 (en) System and method for improving the accuracy of DNA sequencing and error probability estimation through application of a mathematical model to the analysis of electropherograms
CN107480470B (zh) 基于贝叶斯与泊松分布检验的已知变异检出方法和装置
CN111599407A (zh) 拷贝数变异的检测方法和装置
Vohr et al. A phylogenetic approach for haplotype analysis of sequence data from complex mitochondrial mixtures
JP6066924B2 (ja) Ｄｎａ配列のデータ解析法
CN103955630A (zh) 制备参考数据库及对待测游离核酸样本进行目标区域序列比对的方法
CN110846411A (zh) 一种基于二代测序的单独肿瘤样本区分基因突变类型的方法
CN105046105B (zh) 染色体跨度的单体型图及其构建方法
Lawrence et al. Assignment of position-specific error probability to primary DNA sequence data
CN108268752A (zh) 一种染色体异常检测装置
CN108004302A (zh) 一种转录组参考的关联分析方法及其应用
JP7506060B2 (ja) 検出限界ベースの品質管理メトリック
JP2021526857A5 (https=)
JP5403563B2 (ja) 網羅的フラグメント解析における遺伝子同定方法および発現解析方法
Feng et al. Inference of isoforms from short sequence reads
RU2017104533A (ru) Способ неинвазивного пренатального выявления эмбриональной хромосомной анеуплоидии по материнской крови
US12073921B2 (en) System for increasing the accuracy of non invasive prenatal diagnostics and liquid biopsy by observed loci bias correction at single base resolution
AlEisa et al. K‐Mer Spectrum‐Based Error Correction Algorithm for Next‐Generation Sequencing Data
US20220101947A1 (en) Method for determining fetal fraction in maternal sample
CN117106870A (zh) 胎儿浓度的确定方法及装置
Emma Huang et al. iDArTs: increasing the value of genomic resources at no cost
US11127485B2 (en) Techniques for fine grained correction of count bias in massively parallel DNA sequencing