CN105830077B - 用于在确定拷贝数变异中改善检测的灵敏度的方法 - Google Patents

用于在确定拷贝数变异中改善检测的灵敏度的方法 Download PDF

Info

Publication number
CN105830077B
CN105830077B CN201480070158.4A CN201480070158A CN105830077B CN 105830077 B CN105830077 B CN 105830077B CN 201480070158 A CN201480070158 A CN 201480070158A CN 105830077 B CN105830077 B CN 105830077B
Authority
CN
China
Prior art keywords
sequence
coverage
sample
bin
nucleic acid
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.)
Expired - Fee Related
Application number
CN201480070158.4A
Other languages
English (en)
Chinese (zh)
Other versions
CN105830077A (zh
Inventor
达里娅·I·丘多瓦
戴安娜·阿布杜伊瓦
里查德·P·拉瓦
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Verinata Health Inc
Original Assignee
Verinata Health Inc
Priority date (The priority date 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 date listed.)
Filing date
Publication date
Application filed by Verinata Health Inc filed Critical Verinata Health Inc
Publication of CN105830077A publication Critical patent/CN105830077A/zh
Application granted granted Critical
Publication of CN105830077B publication Critical patent/CN105830077B/zh
Expired - Fee Related legal-status Critical Current
Anticipated expiration legal-status Critical

Links

Classifications

    • 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
    • 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
    • G16B25/00—ICT specially adapted for hybridisation; ICT specially adapted for gene or protein expression
    • 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
    • G16B25/00—ICT specially adapted for hybridisation; ICT specially adapted for gene or protein expression
    • G16B25/10—Gene or protein expression profiling; Expression-ratio estimation or normalisation
    • 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
    • G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
    • G16H50/00—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics
    • G16H50/20—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics for computer-aided diagnosis, e.g. based on medical expert systems

Landscapes

  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Physics & Mathematics (AREA)
  • Medical Informatics (AREA)
  • General Health & Medical Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biophysics (AREA)
  • Biotechnology (AREA)
  • Genetics & Genomics (AREA)
  • Theoretical Computer Science (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Evolutionary Biology (AREA)
  • Chemical & Material Sciences (AREA)
  • Molecular Biology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Public Health (AREA)
  • Analytical Chemistry (AREA)
  • Biomedical Technology (AREA)
  • Databases & Information Systems (AREA)
  • Organic Chemistry (AREA)
  • Epidemiology (AREA)
  • Data Mining & Analysis (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Pathology (AREA)
  • Primary Health Care (AREA)
  • Evolutionary Computation (AREA)
  • Bioethics (AREA)
  • Artificial Intelligence (AREA)
  • Software Systems (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Biochemistry (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • General Engineering & Computer Science (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
CN201480070158.4A 2013-10-21 2014-10-21 用于在确定拷贝数变异中改善检测的灵敏度的方法 Expired - Fee Related CN105830077B (zh)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201361893830P 2013-10-21 2013-10-21
US61/893,830 2013-10-21
PCT/US2014/061635 WO2015061359A1 (en) 2013-10-21 2014-10-21 Method for improving the sensitivity of detection in determining copy number variations

Publications (2)

Publication Number Publication Date
CN105830077A CN105830077A (zh) 2016-08-03
CN105830077B true CN105830077B (zh) 2019-07-09

Family

ID=51894216

Family Applications (1)

Application Number Title Priority Date Filing Date
CN201480070158.4A Expired - Fee Related CN105830077B (zh) 2013-10-21 2014-10-21 用于在确定拷贝数变异中改善检测的灵敏度的方法

Country Status (9)

Country Link
US (1) US10741269B2 (enExample)
EP (2) EP4227947A1 (enExample)
JP (1) JP6534191B2 (enExample)
KR (2) KR102429186B1 (enExample)
CN (1) CN105830077B (enExample)
AU (2) AU2014340239B2 (enExample)
CA (1) CA2928185C (enExample)
IL (1) IL245177B (enExample)
WO (1) WO2015061359A1 (enExample)

Families Citing this family (55)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US9605313B2 (en) 2012-03-02 2017-03-28 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
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
CN105190656B (zh) 2013-01-17 2018-01-16 佩索纳里斯公司 用于遗传分析的方法和系统
EP2971100A1 (en) 2013-03-13 2016-01-20 Sequenom, Inc. Primers for dna methylation analysis
CA2928185C (en) 2013-10-21 2024-01-30 Verinata Health, Inc. Method for improving the sensitivity of detection in determining copy number variations
US11365447B2 (en) 2014-03-13 2022-06-21 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP3149199B1 (en) * 2014-05-30 2020-03-25 Verinata Health, Inc. Detecting, optionally fetal, sub-chromosomal aneuploidies and copy number variations
TWI895765B (zh) 2014-07-18 2025-09-01 香港中文大學 Dna混合物中之組織甲基化模式分析
EP3204512B1 (en) * 2014-10-10 2020-05-06 Sequenom, Inc. Methods for partitioning of genomic sequences
WO2016070131A1 (en) 2014-10-30 2016-05-06 Personalis, Inc. Methods for using mosaicism in nucleic acids sampled distal to their origin
US11789906B2 (en) * 2014-11-19 2023-10-17 Arc Bio, Llc Systems and methods for genomic manipulations and analysis
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
US10733476B1 (en) 2015-04-20 2020-08-04 Color Genomics, Inc. Communication generation using sparse indicators and sensor data
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
BE1023267B1 (nl) * 2015-07-13 2017-01-17 Cartagenia N.V. Werkwijze voor het analyseren van kopienummervariatie bij de detectie van kanker
EP3118324A1 (en) * 2015-07-13 2017-01-18 Cartagenia N.V. Method for analyzing copy number variation in the detection of cancer
US10095831B2 (en) 2016-02-03 2018-10-09 Verinata Health, Inc. Using cell-free DNA fragment size to determine copy number variations
US11299783B2 (en) 2016-05-27 2022-04-12 Personalis, Inc. Methods and systems for genetic analysis
US20190287645A1 (en) * 2016-07-06 2019-09-19 Guardant Health, Inc. Methods for fragmentome profiling of cell-free nucleic acids
CA3214358A1 (en) * 2016-09-22 2018-03-29 Illumina, Inc Somatic copy number variation detection
US11854666B2 (en) 2016-09-29 2023-12-26 Myriad Women's Health, Inc. Noninvasive prenatal screening using dynamic iterative depth optimization
IL315032A (en) 2016-11-30 2024-10-01 Univ Hong Kong Chinese Analysis of cell-free dna in urine and other samples
WO2018119438A1 (en) * 2016-12-22 2018-06-28 Grail, Inc. Base coverage normalization and use thereof in detecting copy number variation
MX2019007444A (es) 2016-12-22 2019-08-16 Guardant Health Inc Metodos y sistemas para analisis de moleculas de acido nucleico.
US11929143B2 (en) 2017-01-20 2024-03-12 Sequenom, Inc Methods for non-invasive assessment of copy number alterations
KR101957909B1 (ko) 2017-02-24 2019-03-15 에스디지노믹스 주식회사 복제수 변이 후보 우선순위 연산 방법
WO2018170443A1 (en) * 2017-03-16 2018-09-20 Counsyl, Inc. Multi-dimensional sample-dependent and batch-dependent quality control
US11342047B2 (en) 2017-04-21 2022-05-24 Illumina, Inc. Using cell-free DNA fragment size to detect tumor-associated variant
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
EP3765633A4 (en) * 2018-03-13 2021-12-01 Grail, Inc. PROCESS AND SYSTEM FOR THE SELECTION, ADMINISTRATION AND ANALYSIS OF HIGH DIMENSIONAL DATA
DE202019005627U1 (de) 2018-04-02 2021-05-31 Grail, Inc. Methylierungsmarker und gezielte Methylierungssondenpanels
CN108647492B (zh) * 2018-05-02 2019-04-16 中国人民解放军军事科学院军事医学研究院 一种染色质拓扑相关结构域的表征方法及装置
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
AU2019277698A1 (en) 2018-06-01 2020-11-19 Grail, Llc Convolutional neural network systems and methods for data classification
AU2019351130B2 (en) 2018-09-27 2025-10-23 GRAIL, Inc Methylation markers and targeted methylation probe panel
KR102215151B1 (ko) 2018-09-28 2021-02-10 한양대학교 산학협력단 다중 참조 유전체에 기반한 유전체 구조변이 검출 방법 및 구조변이 검출 장치
GB2577548B (en) 2018-09-28 2022-10-26 Siemens Healthcare Gmbh Method for determining a subject's genetic copy number value
CN111028888B (zh) * 2018-10-09 2024-07-16 北京贝瑞和康生物技术有限公司 一种全基因组拷贝数变异的检测方法及其应用
UY38479A (es) 2018-11-19 2020-06-30 Sist Genomicos S L Método y producto informático de análisis de adn fetal por secuenciación masiva
CN109754845B (zh) * 2018-12-29 2020-02-28 浙江安诺优达生物科技有限公司 模拟目标疾病仿真测序文库的方法及其应用
CN109887546B (zh) * 2019-01-15 2019-12-27 明码（上海）生物科技有限公司 基于二代测序的单基因或多基因拷贝数检测系统及方法
CN112823391B (zh) * 2019-06-03 2024-07-05 Illumina公司 基于检测限的质量控制度量
US20210102262A1 (en) 2019-09-23 2021-04-08 Grail, Inc. Systems and methods for diagnosing a disease condition using on-target and off-target sequencing data
CN114616343A (zh) 2019-09-30 2022-06-10 夸登特健康公司 用于在甲基化分区测定中分析无细胞dna的组合物和方法
CN114945987A (zh) 2019-11-05 2022-08-26 佩索纳里斯公司 从单一样品预估肿瘤纯度
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
US11475981B2 (en) 2020-02-18 2022-10-18 Tempus Labs, Inc. Methods and systems for dynamic variant thresholding in a liquid biopsy assay
WO2022087309A1 (en) 2020-10-23 2022-04-28 Guardant Health, Inc. Compositions and methods for analyzing dna using partitioning and base conversion
WO2023059654A1 (en) 2021-10-05 2023-04-13 Personalis, Inc. Customized assays for personalized cancer monitoring
WO2025006570A2 (en) * 2023-06-30 2025-01-02 Illumina, Inc. Modifying sequencing cycles or imaging during a sequencing run to meet customized coverage estimation
CN117524301B (zh) * 2024-01-04 2024-04-09 北京泛生子基因科技有限公司 一种拷贝数变异的检测方法、装置以及计算机可读介质

Citations (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN101849236A (zh) * 2007-07-23 2010-09-29 香港中文大学 利用基因组测序诊断胎儿染色体非整倍性
CN102791881A (zh) * 2009-11-06 2012-11-21 香港中文大学 基于大小的基因组分析
CN102985561A (zh) * 2011-04-14 2013-03-20 维里纳塔健康公司 用于确定并且验证常见的和罕见的染色体非整倍性的归一化染色体
CN103003447A (zh) * 2011-07-26 2013-03-27 维里纳塔健康公司 用于确定样品中存在或不存在不同非整倍性的方法
WO2013109981A1 (en) * 2012-01-20 2013-07-25 Sequenom, Inc. Diagnostic processes that factor experimental conditions

Family Cites Families (36)

* 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
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
CA2786565C (en) 2010-01-19 2017-04-25 Verinata Health, Inc. Partition defined detection methods
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
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
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
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
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

Patent Citations (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN101849236A (zh) * 2007-07-23 2010-09-29 香港中文大学 利用基因组测序诊断胎儿染色体非整倍性
CN102791881A (zh) * 2009-11-06 2012-11-21 香港中文大学 基于大小的基因组分析
CN102985561A (zh) * 2011-04-14 2013-03-20 维里纳塔健康公司 用于确定并且验证常见的和罕见的染色体非整倍性的归一化染色体
CN103003447A (zh) * 2011-07-26 2013-03-27 维里纳塔健康公司 用于确定样品中存在或不存在不同非整倍性的方法
WO2013109981A1 (en) * 2012-01-20 2013-07-25 Sequenom, Inc. Diagnostic processes that factor experimental conditions

Non-Patent Citations (1)

* Cited by examiner, † Cited by third party
Title
Read count approach for DNA copy number variants detection;Alberto Magi etc.;《bioinformatics》;20121223;第28卷(第4期);第470-480页 *

Also Published As

Publication number Publication date
AU2020200728C1 (en) 2021-09-09
US20160239604A1 (en) 2016-08-18
AU2014340239A1 (en) 2016-05-12
EP4227947A1 (en) 2023-08-16
KR20160073405A (ko) 2016-06-24
CA2928185C (en) 2024-01-30
WO2015061359A1 (en) 2015-04-30
JP6534191B2 (ja) 2019-06-26
CA2928185A1 (en) 2015-04-30
KR102373647B1 (ko) 2022-03-11
AU2014340239B2 (en) 2019-11-28
IL245177A0 (en) 2016-06-30
KR102429186B1 (ko) 2022-08-03
JP2016539630A (ja) 2016-12-22
US10741269B2 (en) 2020-08-11
EP3061021A1 (en) 2016-08-31
AU2020200728B2 (en) 2021-05-27
EP3061021B1 (en) 2023-05-10
IL245177B (en) 2019-11-28
KR20220034929A (ko) 2022-03-18
AU2020200728A1 (en) 2020-02-20
BR112016008870A8 (pt) 2020-03-24
CN105830077A (zh) 2016-08-03

Similar Documents

Publication Publication Date Title
AU2020200728B2 (en) Method for improving the sensitivity of detection in determining copy number variations
CN106795558B (zh) 检测胎儿亚染色体非整倍性和拷贝数变异
CN105722994B (zh) 用于确定性染色体中的拷贝数变异的方法
HK40098511A (en) Method for improving the sensitivity of detection in determining copy number variations
HK1228052B (en) Method for improving the sensitivity of detection in determining copy number variations
HK1228052A1 (en) Method for improving the sensitivity of detection in determining copy number variations
HK40013205A (en) Method for generating a masked reference sequence of the y chromosome
HK40013205B (en) Method for generating a masked reference sequence of the y chromosome
HK1223988B (en) Method for determining copy number variations in sex chromosomes
BR112016008870B1 (pt) Método e sistema para avaliação de número de cópias de uma sequência de ácidos nucleicos de interesse em uma amostra de teste, e, método para criar um mascarador de sequência
HK1235436B (en) Detecting, optionally fetal, sub-chromosomal aneuploidies and copy number variations
HK1235436A1 (en) Detecting, optionally fetal, sub-chromosomal aneuploidies and copy number variations

Legal Events

Date Code Title Description
C06 Publication
PB01 Publication
C10 Entry into substantive examination
SE01 Entry into force of request for substantive examination
GR01 Patent grant
GR01 Patent grant
CF01 Termination of patent right due to non-payment of annual fee

Granted publication date: 20190709

CF01 Termination of patent right due to non-payment of annual fee