HK1204377A1 - Methods for analyzing massively parallel sequencing data for noninvasive prenatal diagnosis - Google Patents

Methods for analyzing massively parallel sequencing data for noninvasive prenatal diagnosis

Info

Publication number
HK1204377A1
HK1204377A1 HK15104962.9A HK15104962A HK1204377A1 HK 1204377 A1 HK1204377 A1 HK 1204377A1 HK 15104962 A HK15104962 A HK 15104962A HK 1204377 A1 HK1204377 A1 HK 1204377A1
Authority
HK
Hong Kong
Prior art keywords
analyzing
methods
sequencing data
massively parallel
parallel sequencing
Prior art date
Application number
HK15104962.9A
Other languages
English (en)
Chinese (zh)
Inventor
Zhang Chen
Yuk Ming Dennis Lo
Kwan Chee Chan
Wenli Zheng
Hao Sun
Wai Kwun Rossa Chiu
Original Assignee
Univ Hong Kong Chinese
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 Univ Hong Kong Chinese filed Critical Univ Hong Kong Chinese
Publication of HK1204377A1 publication Critical patent/HK1204377A1/xx

Links

Classifications

    • 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
    • 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
    • G16B15/00—ICT specially adapted for analysing two-dimensional or three-dimensional molecular structures, e.g. structural or functional relations or structure alignment
    • 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
    • G16B30/20—Sequence assembly
    • 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

Landscapes

  • Physics & Mathematics (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Engineering & Computer Science (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Chemical & Material Sciences (AREA)
  • Biophysics (AREA)
  • Theoretical Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Medical Informatics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Biotechnology (AREA)
  • Evolutionary Biology (AREA)
  • Analytical Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Molecular Biology (AREA)
  • Genetics & Genomics (AREA)
  • Crystallography & Structural Chemistry (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
HK15104962.9A 2012-03-13 2015-05-26 Methods for analyzing massively parallel sequencing data for noninvasive prenatal diagnosis HK1204377A1 (en)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US201261610422P 2012-03-13 2012-03-13
PCT/US2013/031082 WO2013138527A1 (en) 2012-03-13 2013-03-13 Methods for analyzing massively parallel sequencing data for noninvasive prenatal diagnosis

Publications (1)

Publication Number Publication Date
HK1204377A1 true HK1204377A1 (en) 2015-11-13

Family

ID=49158429

Family Applications (1)

Application Number Title Priority Date Filing Date
HK15104962.9A HK1204377A1 (en) 2012-03-13 2015-05-26 Methods for analyzing massively parallel sequencing data for noninvasive prenatal diagnosis

Country Status (7)

Country Link
US (1) US9218449B2 (xx)
EP (2) EP3573066B1 (xx)
JP (1) JP6411995B2 (xx)
AU (1) AU2013232123B2 (xx)
CA (1) CA2866324C (xx)
HK (1) HK1204377A1 (xx)
WO (1) WO2013138527A1 (xx)

Families Citing this family (36)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2012177792A2 (en) 2011-06-24 2012-12-27 Sequenom, Inc. Methods and processes for non-invasive assessment of a genetic variation
US10424394B2 (en) 2011-10-06 2019-09-24 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10196681B2 (en) 2011-10-06 2019-02-05 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US9984198B2 (en) 2011-10-06 2018-05-29 Sequenom, Inc. Reducing sequence read count error in assessment of complex genetic variations
US9367663B2 (en) 2011-10-06 2016-06-14 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US20140242588A1 (en) 2011-10-06 2014-08-28 Sequenom, Inc Methods and processes for non-invasive assessment of genetic variations
EP2805280B1 (en) 2012-01-20 2022-10-05 Sequenom, Inc. Diagnostic processes that factor experimental conditions
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
US10497461B2 (en) 2012-06-22 2019-12-03 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10482994B2 (en) 2012-10-04 2019-11-19 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US20130309666A1 (en) 2013-01-25 2013-11-21 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
ES2939547T3 (es) 2013-04-03 2023-04-24 Sequenom Inc Métodos y procedimientos para la evaluación no invasiva de variaciones genéticas
AU2014268377B2 (en) 2013-05-24 2020-10-08 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
KR102299305B1 (ko) 2013-06-21 2021-09-06 시쿼넘, 인코포레이티드 유전적 변이의 비침습 평가를 위한 방법 및 프로세스
IL304949A (en) 2013-10-04 2023-10-01 Sequenom Inc Methods and processes for non-invasive evaluation of genetic variations
US10438691B2 (en) 2013-10-07 2019-10-08 Sequenom, Inc. Non-invasive assessment of chromosome alterations using change in subsequence mappability
KR102429186B1 (ko) 2013-10-21 2022-08-03 베리나타 헬스, 인코포레이티드 사본수 변동을 결정함에 있어서 검출의 감수성을 향상시키기 위한 방법
CN105829589B (zh) 2013-11-07 2021-02-02 小利兰·斯坦福大学理事会 用于分析人体微生物组及其组分的无细胞核酸
AU2015292311B2 (en) 2014-07-25 2022-01-20 University Of Washington Methods of determining tissues and/or cell types giving rise to cell-free DNA, and methods of identifying a disease or disorder using same
EP3175000B1 (en) 2014-07-30 2020-07-29 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP3502273B1 (en) 2014-12-12 2020-07-08 Verinata Health, Inc. Cell-free dna fragment
BR112017024747A2 (pt) 2015-05-18 2018-11-13 Karius Inc composições e métodos para enriquecer populações de ácidos nucleicos
KR101678962B1 (ko) * 2015-08-21 2016-12-06 이승재 대규모 병렬형 게놈서열분석 방법을 이용한 비침습적 산전검사 장치 및 방법
US10095831B2 (en) 2016-02-03 2018-10-09 Verinata Health, Inc. Using cell-free DNA fragment size to determine copy number variations
JP6743268B2 (ja) 2016-03-25 2020-08-19 カリウス・インコーポレイテッド 合成核酸スパイクイン
ES2967443T3 (es) * 2016-07-06 2024-04-30 Guardant Health Inc Procedimientos de perfilado de fragmentoma de ácidos nucleicos sin células
US11200963B2 (en) 2016-07-27 2021-12-14 Sequenom, Inc. Genetic copy number alteration classifications
JP7237003B2 (ja) 2017-01-24 2023-03-10 セクエノム， インコーポレイテッド 遺伝子片の評価のための方法およびプロセス
CA3059370C (en) 2017-04-12 2022-05-10 Karius, Inc. Methods for concurrent analysis of dna and rna in mixed samples
EP3700423A4 (en) 2017-10-27 2021-08-18 Juno Diagnostics, Inc. DEVICES, SYSTEMS AND METHODS FOR LIQUID BIOPSY WITH ULTRANO LOW VOLUME
CN108733979A (zh) * 2017-10-30 2018-11-02 成都凡迪医疗器械有限公司 Nipt的gc含量校准方法、装置及计算机可读存储介质
EP3765592A4 (en) 2018-03-16 2021-12-08 Karius Inc. SERIES OF SAMPLES TO DIFFERENTIATE TARGET NUCLEIC ACIDS FROM CONTAMINATING NUCLEIC ACIDS
US11475981B2 (en) 2020-02-18 2022-10-18 Tempus Labs, Inc. Methods and systems for dynamic variant thresholding in a liquid biopsy assay
US11211144B2 (en) 2020-02-18 2021-12-28 Tempus Labs, Inc. Methods and systems for refining copy number variation 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

Family Cites Families (13)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6927028B2 (en) 2001-08-31 2005-08-09 Chinese University Of Hong Kong Non-invasive methods for detecting non-host DNA in a host using epigenetic differences between the host and non-host DNA
AT412476B (de) 2002-09-24 2005-03-25 Forsch Krebskranke Kinder Verfahren zur herstellung eines virtuellen chromosoms
US7371525B2 (en) 2003-07-29 2008-05-13 The Chinese University Of Hong Kong Compositions and methods for diagnosing and treating severe acute respiratory syndrome (SARS)
CA3007182A1 (en) 2005-03-18 2006-09-21 The Chinese University Of Hong Kong Markers for prenatal diagnosis, monitoring or predicting preeclampsia
US7754428B2 (en) 2006-05-03 2010-07-13 The Chinese University Of Hong Kong Fetal methylation markers
US7901884B2 (en) 2006-05-03 2011-03-08 The Chinese University Of Hong Kong Markers for prenatal diagnosis and monitoring
US20100190777A1 (en) 2007-07-17 2010-07-29 Plexxikon Inc. Compounds and methods for kinase modulation, and indications therefor
US20100112590A1 (en) 2007-07-23 2010-05-06 The Chinese University Of Hong Kong Diagnosing Fetal Chromosomal Aneuploidy Using Genomic Sequencing With Enrichment
EP2334812B1 (en) 2008-09-20 2016-12-21 The Board of Trustees of The Leland Stanford Junior University Noninvasive diagnosis of fetal aneuploidy by sequencing
US8563242B2 (en) 2009-08-11 2013-10-22 The Chinese University Of Hong Kong Method for detecting chromosomal aneuploidy
HUE034854T2 (en) 2009-11-05 2018-03-28 Univ Hong Kong Chinese Fetal genomic analysis from maternal biological samples
EP3406737B1 (en) 2009-11-06 2023-05-31 The Chinese University of Hong Kong Size-based genomic analysis
US8725422B2 (en) 2010-10-13 2014-05-13 Complete Genomics, Inc. Methods for estimating genome-wide copy number variations

Also Published As

Publication number Publication date
US9218449B2 (en) 2015-12-22
AU2013232123A1 (en) 2013-11-07
JP6411995B2 (ja) 2018-10-24
CA2866324C (en) 2019-01-15
EP3573066B1 (en) 2023-09-27
JP2015515266A (ja) 2015-05-28
EP3573066A1 (en) 2019-11-27
WO2013138527A1 (en) 2013-09-19
AU2013232123B2 (en) 2014-10-30
CA2866324A1 (en) 2013-09-19
EP2825991A1 (en) 2015-01-21
US20130245961A1 (en) 2013-09-19
EP2825991B1 (en) 2019-05-15
EP2825991A4 (en) 2015-09-02

Similar Documents

Publication Publication Date Title
HK1204377A1 (en) Methods for analyzing massively parallel sequencing data for noninvasive prenatal diagnosis
LT3305918T (lt) Būdai, skirti epigenetinių sekų sudarymui
IL233819A0 (en) Analysis of DNA sequence data
EP2852322A4 (en) SPIROMETER SYSTEM AND DATA ANALYSIS METHODS
EP2929458A4 (en) ANALYSIS OF READING METRICS
PL2366031T3 (pl) Metody sekwencjonowania w diagnostyce prenatalnej
IL229531A (en) Malware Analysis System
EP2740026A4 (en) METHOD AND SYSTEMS FOR BIOLOGICAL DATA ANALYSIS
EP2712451A4 (en) DATA ANALYSIS SYSTEM
GB201217772D0 (en) Sequencing method
EP2768983A4 (en) METHODS OF IDENTIFYING MUTATIONS ASSOCIATED WITH DISEASES
EP2888587A4 (en) BREATH TEST SYSTEM
HK1245851A1 (zh) 通過使用靶向大規模並行測序的等位基因比率分析進行的胎兒三體性的非侵入性產前診斷
EP2764112A4 (en) DIRECT NUCLEIC ACID ANALYSIS
EP2775307A4 (en) AUTOMATED ANALYSIS SYSTEM
GB201100150D0 (en) Mutational analysis
ZA201402224B (en) Diagnostic apparatus
GB2488349B (en) Location data analysis
HUP1200607A2 (en) Diagnostic method
GB2532883B (en) Analysis of breathing data
EP2754077A4 (en) GENOMIC TENSOR ANALYSIS FOR MEDICAL EVALUATION AND PREDICTION
EP2844773A4 (en) ANALYSIS OF BIOMARKERS USING SCODAPHORESIS
GB201212135D0 (en) Improved sequencing apparatus
EP2914984A4 (en) ANALYSIS OF SEISMIC DATA
ZA201407867B (en) Ore analysis system