MA40939A - Utilisation de la taille de fragments d'adn acellulaire pour déterminer les variations du nombre de copies - Google Patents

Utilisation de la taille de fragments d'adn acellulaire pour déterminer les variations du nombre de copies

Info

Publication number
MA40939A
MA40939A MA040939A MA40939A MA40939A MA 40939 A MA40939 A MA 40939A MA 040939 A MA040939 A MA 040939A MA 40939 A MA40939 A MA 40939A MA 40939 A MA40939 A MA 40939A
Authority
MA
Morocco
Prior art keywords
size
vnc
fragments
determining
methods
Prior art date
Application number
MA040939A
Other languages
English (en)
Inventor
Catalin Barbacioru
Darya I Chudova
David A Comstock
Sven Duenwald
Richard P Rava
Original Assignee
Verinata Health Inc
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Filing date
Publication date
Application filed by Verinata Health Inc filed Critical Verinata Health Inc
Publication of MA40939A publication Critical patent/MA40939A/fr

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    • C—CHEMISTRY; METALLURGY
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    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6809—Methods for determination or identification of nucleic acids involving differential detection
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6869—Methods for sequencing
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/10—Ploidy or copy number detection
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/10—Sequence alignment; Homology search
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2535/00—Reactions characterised by the assay type for determining the identity of a nucleotide base or a sequence of oligonucleotides
    • C12Q2535/122—Massive parallel sequencing
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2537/00—Reactions characterised by the reaction format or use of a specific feature
    • C12Q2537/10—Reactions characterised by the reaction format or use of a specific feature the purpose or use of
    • C12Q2537/16—Assays for determining copy number or wherein the copy number is of special importance
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2537/00—Reactions characterised by the reaction format or use of a specific feature
    • C12Q2537/10—Reactions characterised by the reaction format or use of a specific feature the purpose or use of
    • C12Q2537/165—Mathematical modelling, e.g. logarithm, ratio
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2545/00—Reactions characterised by their quantitative nature
    • C12Q2545/10—Reactions characterised by their quantitative nature the purpose being quantitative analysis
    • C12Q2545/101—Reactions characterised by their quantitative nature the purpose being quantitative analysis with an internal standard/control

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  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Health & Medical Sciences (AREA)
  • Physics & Mathematics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Analytical Chemistry (AREA)
  • Biotechnology (AREA)
  • General Health & Medical Sciences (AREA)
  • Biophysics (AREA)
  • Organic Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Molecular Biology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Theoretical Computer Science (AREA)
  • Medical Informatics (AREA)
  • Evolutionary Biology (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • General Engineering & Computer Science (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • Immunology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Algebra (AREA)
  • General Physics & Mathematics (AREA)
  • Mathematical Analysis (AREA)
  • Mathematical Optimization (AREA)
  • Mathematical Physics (AREA)
  • Pure & Applied Mathematics (AREA)

Abstract

La présente invention concerne des procédés permettant de déterminer la variation du nombre de copies (vnc) que l'on sait ou que l'on soupçonne être associée à diverses affections médicales. Selon certains modes de réalisation, l'invention concerne des procédés permettant de déterminer la variation du nombre de copies (vnc) chez des fœtus au moyen d'échantillons maternels contenant de l'adn acellulaire maternel et fœtal. Selon certains modes de réalisation, l'invention concerne des procédés permettant de déterminer des vnc que l'on sait ou que l'on soupçonne être associées à diverses affections médicales. L'invention concerne, selon certains modes de réalisation, des procédés permettant d'améliorer la sensibilité et/ou la spécificité de l'analyse de données de séquence en obtenant un paramètre associé à la taille des fragments, tel que la couverture pondérée par la taille ou une fraction de fragments s'insérant dans un intervalle de taille. Dans certains modes de réalisation, le paramètre associé à la taille des fragments est ajusté pour éliminer le biais associé au taux de gc à l'intérieur de l'échantillon. Selon certains modes de réalisation, l'élimination du biais associé au taux de gc à l'intérieur de l'échantillon est fondée sur des données de séquence corrigées pour tenir compte de la variation systématique commune dans les échantillons d'entraînement non affectés. L'invention concerne également des systèmes et des produits de type programmes informatiques destinés à évaluer la vnc de séquences d'intérêt.
MA040939A 2014-12-12 2015-12-11 Utilisation de la taille de fragments d'adn acellulaire pour déterminer les variations du nombre de copies MA40939A (fr)

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
US201462091380P 2014-12-12 2014-12-12

Publications (1)

Publication Number Publication Date
MA40939A true MA40939A (fr) 2017-10-18

Family

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MA040939A MA40939A (fr) 2014-12-12 2015-12-11 Utilisation de la taille de fragments d'adn acellulaire pour déterminer les variations du nombre de copies

Country Status (10)

Country Link
US (2) US11072814B2 (fr)
EP (3) EP3230469B1 (fr)
CN (2) CN107750277B (fr)
AU (1) AU2015360298B2 (fr)
CA (1) CA2970501C (fr)
CY (1) CY1121772T1 (fr)
DK (1) DK3230469T3 (fr)
HK (1) HK1244844B (fr)
MA (1) MA40939A (fr)
WO (1) WO2016094853A1 (fr)

Families Citing this family (55)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
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
EP3561072A1 (fr) 2012-12-10 2019-10-30 Resolution Bioscience, Inc. Procédés d'analyse génomique ciblée
CN105830077B (zh) 2013-10-21 2019-07-09 维里纳塔健康公司 用于在确定拷贝数变异中改善检测的灵敏度的方法
BR112016027848A2 (pt) 2014-05-30 2017-08-22 Verinata Health Inc Método para avaliação de número de cópias de uma sequência de interesse, meio legível por máquina não transitória, e, sistema para avaliação de número de cópias de uma sequência de interesse
EP3543356B1 (fr) 2014-07-18 2021-06-30 The Chinese University of Hong Kong Analyse de motifs de méthylation de tissus dans un mélange d'adn
US20160053301A1 (en) 2014-08-22 2016-02-25 Clearfork Bioscience, Inc. Methods for quantitative genetic analysis of cell free dna
MA40939A (fr) 2014-12-12 2017-10-18 Verinata Health Inc Utilisation de la taille de fragments d'adn acellulaire pour déterminer les variations du nombre de copies
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
EP3374525B1 (fr) 2015-11-11 2021-01-20 Resolution Bioscience, Inc. Construction haute efficacité de banques d'adn
EP3390668A4 (fr) 2015-12-17 2020-04-01 Guardant Health, Inc. Procédés de détermination du nombre de copies du gène tumoral par analyse d'adn acellulaire
US10095831B2 (en) * 2016-02-03 2018-10-09 Verinata Health, Inc. Using cell-free DNA fragment size to determine copy number variations
US11514289B1 (en) * 2016-03-09 2022-11-29 Freenome Holdings, Inc. Generating machine learning models using genetic data
ES2967443T3 (es) * 2016-07-06 2024-04-30 Guardant Health Inc Procedimientos de perfilado de fragmentoma de ácidos nucleicos sin células
EP3494234B1 (fr) * 2016-08-05 2025-02-12 The Broad Institute, Inc. Procédés pour la caractérisation génomique
IL264971B2 (en) 2016-08-25 2024-10-01 Resolution Bioscience Inc Methods for identifying changes in a genomic copy in DNA samples
WO2018081130A1 (fr) * 2016-10-24 2018-05-03 The Chinese University Of Hong Kong Méthodes et systèmes de détection d'une tumeur
KR20260032575A (ko) 2016-11-30 2026-03-09 더 차이니즈 유니버시티 오브 홍콩 소변 및 기타 샘플에서의 무세포 dna의 분석
US12100483B2 (en) 2016-12-22 2024-09-24 Grail, Llc Base coverage normalization and use thereof in detecting copy number variation
GB2559319B (en) 2016-12-23 2019-01-16 Cs Genetics Ltd Reagents and methods for the analysis of linked nucleic acids
CN106650312B (zh) * 2016-12-29 2022-05-17 浙江安诺优达生物科技有限公司 一种用于循环肿瘤dna拷贝数变异检测的装置
EP4421489B1 (fr) 2017-01-25 2026-03-11 The Chinese University of Hong Kong Applications diagnostiques utilisant des fragments d'acide nucléique
CN110914456A (zh) * 2017-03-31 2020-03-24 普莱梅沙有限公司 检测胎儿染色体异常的方法
US11342047B2 (en) 2017-04-21 2022-05-24 Illumina, Inc. Using cell-free DNA fragment size to detect tumor-associated variant
US11535896B2 (en) 2017-05-15 2022-12-27 Katholieke Universiteit Leuven Method for analysing cell-free nucleic acids
WO2018227202A1 (fr) * 2017-06-09 2018-12-13 Bellwether Bio, Inc. Détermination du type de cancer chez un sujet par modélisation probabiliste de points d'extrémité de fragment d'acide nucléique circulant
US11450121B2 (en) * 2017-06-27 2022-09-20 The Regents Of The University Of California Label-free digital brightfield analysis of nucleic acid amplification
LT3658689T (lt) * 2017-07-26 2021-06-25 Trisomytest, S.R.O. Neinvazinis prenatalinis vaisiaus chromosomos aneuploidijos nustatymo būdas iš motinos kraujo remiantis bajeso tinklu
KR20250171389A (ko) 2017-07-26 2025-12-08 더 차이니즈 유니버시티 오브 홍콩 세포-무함유 바이러스 핵산을 사용하는 암 스크리닝의 증강
CN108342469A (zh) * 2018-02-27 2018-07-31 广州中安基因科技有限公司 一种皮肤基因检测的基因芯片
WO2019178220A1 (fr) * 2018-03-13 2019-09-19 Grail, Inc. Identification d'aberrations de nombre de copies
WO2019195268A2 (fr) 2018-04-02 2019-10-10 Grail, Inc. Marqueurs de méthylation et panels de sondes de méthylation ciblés
US20210198747A1 (en) * 2018-05-18 2021-07-01 The Johns Hopkins University Cell-free dna for assessing and/or treating cancer
CA3098321A1 (fr) 2018-06-01 2019-12-05 Grail, Inc. Systemes et methodes de reseaux neuronaux convolutifs permettant la classification de donnees
GB201810571D0 (en) 2018-06-27 2018-08-15 Cs Genetics Ltd Reagents and methods for the analysis of circulating microparticles
CN112703254A (zh) * 2018-07-23 2021-04-23 香港中文大学 游离dna损伤分析及其临床应用
CA3111887A1 (fr) 2018-09-27 2020-04-02 Grail, Inc. Marqueurs de methylation et panels de sondes de methylation ciblees
GB2577548B (en) 2018-09-28 2022-10-26 Siemens Healthcare Gmbh Method for determining a subject's genetic copy number value
SG11202100960RA (en) * 2018-10-08 2021-02-25 Freenome Holdings Inc Transcription factor profiling
CN109427412B (zh) * 2018-11-02 2022-02-15 北京吉因加科技有限公司 用于检测肿瘤突变负荷的序列组合和其设计方法
US11581062B2 (en) 2018-12-10 2023-02-14 Grail, Llc Systems and methods for classifying patients with respect to multiple cancer classes
WO2020132628A1 (fr) * 2018-12-20 2020-06-25 Guardant Health, Inc. Procédés, compositions et systèmes pour améliorer la récupération de molécules d'acide nucléique
US12497662B2 (en) 2019-04-16 2025-12-16 Grail, Inc. Systems and methods for tumor fraction estimation from small variants
GB201909325D0 (en) 2019-06-28 2019-08-14 Cs Genetics Ltd Reagents and methods for analysis for microparticles
CN110534202A (zh) * 2019-08-21 2019-12-03 江南大学附属医院（无锡市第四人民医院） 一种针对Sox10在三阴性乳腺癌中的表达进行分析的系统
CN110648721B (zh) * 2019-09-19 2022-04-12 首都医科大学附属北京儿童医院 针对外显子捕获技术检测拷贝数变异的方法及装置
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
CN111763715A (zh) * 2020-08-17 2020-10-13 上海韦翰斯生物医药科技有限公司 脂蛋白a亚型kiv-2结构域的拷贝数量检测试剂盒
US11935627B2 (en) * 2021-12-29 2024-03-19 Mujin, Inc. System and method for text-based biological information processing with analysis refinement
KR102884871B1 (ko) * 2022-01-26 2025-11-11 권창혁 암 판별 장치 및 암 판별 방법
WO2023164558A2 (fr) * 2022-02-24 2023-08-31 The Broad Institute, Inc. Procédés améliorés de détection de néoplasie à partir d'adn acellulaire
EP4500534A1 (fr) * 2022-03-31 2025-02-05 Illumina, Inc. Appel de variant de nombre de copies pour répétition de lpa kiv-2
US20240127906A1 (en) * 2022-10-11 2024-04-18 Illumina, Inc. Detecting and correcting methylation values from methylation sequencing assays
WO2026012389A1 (fr) * 2024-07-09 2026-01-15 Centre For Novostics Concentrations d'adn accellulaire relatives et absolues pour des services cliniques

Family Cites Families (45)

* 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 (fr) 2005-06-06 2007-12-21 454 Life Sciences Corporation Sequencage d'extremites appariees
CA2668818C (fr) 2006-10-10 2018-06-26 Xenomics, Inc. Compositions, procedes et trousses pour isoler acides nucleiques a partir de fluides corporels au moyen d'un milieu d'echange anionique
US8262900B2 (en) 2006-12-14 2012-09-11 Life Technologies Corporation Methods and apparatus for measuring analytes using large scale FET arrays
US9218449B2 (en) 2007-07-23 2015-12-22 The Chinese University Of Hong Kong Methods for analyzing massively parallel sequencing data for noninvasive prenatal diagnosis
KR20220146689A (ko) 2007-07-23 2022-11-01 더 차이니즈 유니버시티 오브 홍콩 핵산 서열 불균형의 결정
KR20100089060A (ko) 2007-10-04 2010-08-11 할싸이언 몰레큘러 전자 현미경으로 핵산 중합체를 시퀀싱하는 방법
WO2009051842A2 (fr) 2007-10-18 2009-04-23 The Johns Hopkins University Détection d'un cancer par mesure du nombre de copies génomiques et de la longueur des brins dans de l'adn exempt de cellules
US20100261183A1 (en) 2007-11-01 2010-10-14 Adam Marcus Shlien Method of determining risk for cancer
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
MX357692B (es) * 2009-11-06 2018-07-19 Univ Hong Kong Chinese Analisis genomico a base de tamaño.
US9260745B2 (en) 2010-01-19 2016-02-16 Verinata Health, Inc. Detecting and classifying copy number variation
WO2011091063A1 (fr) 2010-01-19 2011-07-28 Verinata Health, Inc. Procédés de détection définis par des partitions
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
EP4269623A3 (fr) 2010-11-30 2024-03-06 The Chinese University Of Hong Kong Analyse d'un échantillon biologique d'un organisme pour suppressions ou amplifications chromosomiques associées au cancer
WO2014014498A1 (fr) * 2012-07-20 2014-01-23 Verinata Health, Inc. Détection et classification de variation du nombre de copies dans un génome foetal
US9411937B2 (en) * 2011-04-15 2016-08-09 Verinata Health, Inc. Detecting and classifying copy number variation
WO2012162884A1 (fr) 2011-05-31 2012-12-06 北京贝瑞和康生物技术有限公司 Kits, dispositifs et procédés pour détecter le nombre de copies chromosomiques d'un embryon ou d'une tumeur
SG191757A1 (en) 2011-06-29 2013-08-30 Bgi Health Service Co Ltd Noninvasive detection of fetal genetic abnormality
KR101974492B1 (ko) 2011-07-26 2019-05-02 베리나타 헬스, 인코포레이티드 샘플 중 상이한 이수성의 존재 또는 부재를 결정하는 방법
US9367663B2 (en) 2011-10-06 2016-06-14 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP2764459B1 (fr) * 2011-10-06 2021-06-30 Sequenom, Inc. Procédés et processus d'évaluation non invasive de variations génétiques
EP2772549B8 (fr) * 2011-12-31 2019-09-11 BGI Genomics Co., Ltd. Procédé de détection d'une variation génétique
PL2805280T3 (pl) 2012-01-20 2022-11-21 Sequenom, Inc. Procesy diagnostyczne będące czynnikiem warunków doświadczalnych
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
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
US11261494B2 (en) 2012-06-21 2022-03-01 The Chinese University Of Hong Kong Method of measuring a fractional concentration of tumor DNA
GB2533006B (en) * 2012-09-04 2017-06-07 Guardant Health Inc Systems and methods to detect copy number variation
WO2014052855A1 (fr) 2012-09-27 2014-04-03 Population Diagnostics, Inc. Procédés et compositions de dépistage et de traitement de troubles du développement
ES2980689T3 (es) * 2013-03-15 2024-10-02 Guardant Health Inc Métodos para la secuenciación de polinucleótidos libres de células
EP3543354B1 (fr) 2013-06-17 2022-01-19 Verinata Health, Inc. Procédé pour déterminer les variations du nombre de copies dans des chromosomes sexuels
AU2014284180B2 (en) 2013-06-21 2020-03-19 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
CN105830077B (zh) 2013-10-21 2019-07-09 维里纳塔健康公司 用于在确定拷贝数变异中改善检测的灵敏度的方法
US10415083B2 (en) 2013-10-28 2019-09-17 The Translational Genomics Research Institute Long insert-based whole genome sequencing
BR112016027848A2 (pt) 2014-05-30 2017-08-22 Verinata Health Inc Método para avaliação de número de cópias de uma sequência de interesse, meio legível por máquina não transitória, e, sistema para avaliação de número de cópias de uma sequência de interesse
MA40939A (fr) 2014-12-12 2017-10-18 Verinata Health Inc Utilisation de la taille de fragments d'adn acellulaire pour déterminer les variations du nombre de copies
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
WO2016134452A1 (fr) 2015-02-26 2016-09-01 Titan Medical Inc. Procédé et appareil pour fournir un accès pour une procédure chirurgicale
US10095831B2 (en) 2016-02-03 2018-10-09 Verinata Health, Inc. Using cell-free DNA fragment size to determine copy number variations
TWI661096B (zh) 2016-06-11 2019-06-01 Academia Sinica 功能性抗體片段的高通量篩選方法及其免疫偶聯物以及用於篩選之適體-藥物偶聯物
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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US20210371907A1 (en) 2021-12-02
CA2970501C (fr) 2020-09-15
EP3567120A1 (fr) 2019-11-13
EP3230469A1 (fr) 2017-10-18
CN114181997A (zh) 2022-03-15
EP3567120B1 (fr) 2020-08-19
WO2016094853A1 (fr) 2016-06-16
DK3230469T3 (da) 2019-07-15
CN107750277B (zh) 2021-11-09
US11072814B2 (en) 2021-07-27
EP3502273A1 (fr) 2019-06-26
US20170362638A1 (en) 2017-12-21
HK1244844B (en) 2020-02-07
AU2015360298B2 (en) 2018-06-07
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