CN112513292A - 基于高通量测序检测同源序列的方法和装置 - Google Patents

基于高通量测序检测同源序列的方法和装置 Download PDF

Info

Publication number
CN112513292A
CN112513292A CN201880096241.7A CN201880096241A CN112513292A CN 112513292 A CN112513292 A CN 112513292A CN 201880096241 A CN201880096241 A CN 201880096241A CN 112513292 A CN112513292 A CN 112513292A
Authority
CN
China
Prior art keywords
sequence
homologous
throughput sequencing
reads
homologous sequence
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
CN201880096241.7A
Other languages
English (en)
Other versions
CN112513292B (zh
Inventor
张海萍
杨林
黄国栋
曾鹏
高雅
陈芳
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.)
BGI Shenzhen Co Ltd
Original Assignee
BGI Shenzhen Co Ltd
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 BGI Shenzhen Co Ltd filed Critical BGI Shenzhen Co Ltd
Publication of CN112513292A publication Critical patent/CN112513292A/zh
Application granted granted Critical
Publication of CN112513292B publication Critical patent/CN112513292B/zh
Active legal-status Critical Current
Anticipated expiration legal-status Critical

Links

Images

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

Landscapes

  • Chemical & Material Sciences (AREA)
  • Organic Chemistry (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Microbiology (AREA)
  • Immunology (AREA)
  • Physics & Mathematics (AREA)
  • Molecular Biology (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Analytical Chemistry (AREA)
  • Biochemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)

Abstract

一种基于高通量测序检测同源序列的方法和装置，所述方法包括：获取样本的一对同源序列的特异性扩增产物的高通量测序结果，特异性扩增产物包含至少一个用于区分同源序列的序列特异性位点；将高通量测序结果与参考序列进行比对，并根据序列特异性位点将高通量测序结果区分为两组，每组归属于一个同源序列；将每组归属于一个同源序列的高通量测序结果分别与去除了另一个同源序列的参考序列进行比对；和统计比对到去除了另一个同源序列的参考序列的reads数目，根据reads数确定样本的同源序列信息。本发明能够解决同源序列来源的精确定位问题，实现准确检测突变的目的。

Description

PCT国内申请，说明书已公开。

Claims (15)

  1. PCT国内申请，权利要求书已公开。
CN201880096241.7A 2018-08-27 2018-08-27 基于高通量测序检测同源序列的方法和装置 Active CN112513292B (zh)

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
PCT/CN2018/102546 WO2020041946A1 (zh) 2018-08-27 2018-08-27 基于高通量测序检测同源序列的方法和装置

Publications (2)

Publication Number Publication Date
CN112513292A true CN112513292A (zh) 2021-03-16
CN112513292B CN112513292B (zh) 2023-12-26

Family

ID=69642718

Family Applications (1)

Application Number Title Priority Date Filing Date
CN201880096241.7A Active CN112513292B (zh) 2018-08-27 2018-08-27 基于高通量测序检测同源序列的方法和装置

Country Status (2)

Country Link
CN (1) CN112513292B (zh)
WO (1) WO2020041946A1 (zh)

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN114457169A (zh) * 2022-03-07 2022-05-10 南京鼓楼医院 一种基于高通量测序的RhD基因型检测方法

Citations (13)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2003056030A2 (en) * 2001-11-08 2003-07-10 The Johns Hopkins University Methods and systems of nucleic acid sequencing
CN104531883A (zh) * 2015-01-14 2015-04-22 北京圣谷同创科技发展有限公司 Pkd1基因突变的检测试剂盒及检测方法
WO2016023962A1 (en) * 2014-08-13 2016-02-18 Progenika Biopharma S.A. Consensus-based allele detection
CN105567830A (zh) * 2016-01-29 2016-05-11 江汉大学 一种植物转基因成分的检测方法
CN106282356A (zh) * 2016-08-30 2017-01-04 天津诺禾医学检验所有限公司 一种基于扩增子二代测序点突变检测的方法及装置
CN106367475A (zh) * 2015-07-23 2017-02-01 上海生物信息技术研究中心 一种mmr基因突变检测试剂盒
CN106372459A (zh) * 2016-08-30 2017-02-01 天津诺禾致源生物信息科技有限公司 一种基于扩增子二代测序拷贝数变异检测的方法及装置
WO2017156290A1 (en) * 2016-03-09 2017-09-14 Baylor College Of Medicine A novel algorithm for smn1 and smn2 copy number analysis using coverage depth data from next generation sequencing
CN107653299A (zh) * 2016-07-23 2018-02-02 成都十洲科技有限公司 一种基于高通量测序的基因芯片探针序列的获取方法
CN107688727A (zh) * 2016-08-05 2018-02-13 深圳华大基因股份有限公司 生物序列聚类和全长转录组中转录本亚型识别方法和装置
CN108103204A (zh) * 2017-12-15 2018-06-01 东莞博奥木华基因科技有限公司 基于多重PCR及二代测序的Rh血型分型方法及装置
WO2018112249A1 (en) * 2016-12-15 2018-06-21 Illumina, Inc. Methods and systems for determining paralogs
CN108424907A (zh) * 2018-05-09 2018-08-21 北京大学 一种高通量dna多位点精确碱基突变方法

Family Cites Families (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN102965367B (zh) * 2012-12-04 2014-06-18 中国农业科学院棉花研究所 一种获得棉花候选抗黄萎病基因序列的方法
CN105112569B (zh) * 2015-09-14 2017-11-21 中国医学科学院病原生物学研究所 基于宏基因组学的病毒感染检测及鉴定方法

Patent Citations (13)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2003056030A2 (en) * 2001-11-08 2003-07-10 The Johns Hopkins University Methods and systems of nucleic acid sequencing
WO2016023962A1 (en) * 2014-08-13 2016-02-18 Progenika Biopharma S.A. Consensus-based allele detection
CN104531883A (zh) * 2015-01-14 2015-04-22 北京圣谷同创科技发展有限公司 Pkd1基因突变的检测试剂盒及检测方法
CN106367475A (zh) * 2015-07-23 2017-02-01 上海生物信息技术研究中心 一种mmr基因突变检测试剂盒
CN105567830A (zh) * 2016-01-29 2016-05-11 江汉大学 一种植物转基因成分的检测方法
WO2017156290A1 (en) * 2016-03-09 2017-09-14 Baylor College Of Medicine A novel algorithm for smn1 and smn2 copy number analysis using coverage depth data from next generation sequencing
CN107653299A (zh) * 2016-07-23 2018-02-02 成都十洲科技有限公司 一种基于高通量测序的基因芯片探针序列的获取方法
CN107688727A (zh) * 2016-08-05 2018-02-13 深圳华大基因股份有限公司 生物序列聚类和全长转录组中转录本亚型识别方法和装置
CN106372459A (zh) * 2016-08-30 2017-02-01 天津诺禾致源生物信息科技有限公司 一种基于扩增子二代测序拷贝数变异检测的方法及装置
CN106282356A (zh) * 2016-08-30 2017-01-04 天津诺禾医学检验所有限公司 一种基于扩增子二代测序点突变检测的方法及装置
WO2018112249A1 (en) * 2016-12-15 2018-06-21 Illumina, Inc. Methods and systems for determining paralogs
CN108103204A (zh) * 2017-12-15 2018-06-01 东莞博奥木华基因科技有限公司 基于多重PCR及二代测序的Rh血型分型方法及装置
CN108424907A (zh) * 2018-05-09 2018-08-21 北京大学 一种高通量dna多位点精确碱基突变方法

Non-Patent Citations (2)

* Cited by examiner, † Cited by third party
Title
CHEN F等: "High-Throughput Sequencing Reveals Single Nucleotide Variants in Longer-Kernel Bread Wheat", 《FRONT PLANT SCI》, vol. 7, pages 1 - 10 *
SIMON MM等: "High throughput sequencing approaches to mutation discovery in the mouse", 《MAMM GENOME》, vol. 23, no. 9, pages 499 - 513, XP035120571, DOI: 10.1007/s00335-012-9424-0 *

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN114457169A (zh) * 2022-03-07 2022-05-10 南京鼓楼医院 一种基于高通量测序的RhD基因型检测方法

Also Published As

Publication number Publication date
CN112513292B (zh) 2023-12-26
WO2020041946A1 (zh) 2020-03-05

Similar Documents

Publication Publication Date Title
Guo et al. Three-stage quality control strategies for DNA re-sequencing data
Sheng et al. Multi-perspective quality control of Illumina RNA sequencing data analysis
Krawitz et al. Microindel detection in short-read sequence data
EP4112740B1 (en) Size-based analysis of fetal dna fraction in maternal plasma
CN105441432B (zh) 组合物及其在序列测定和变异检测中的用途
CN109767810B (zh) 高通量测序数据分析方法及装置
CN111341383B (zh) 一种检测拷贝数变异的方法、装置和存储介质
CN107077537A (zh) 用短读测序数据检测重复扩增
AU2016355983B2 (en) Methods for detecting copy-number variations in next-generation sequencing
CN113249453B (zh) 一种检测拷贝数变化的方法
US20170101670A1 (en) Method for detecting rare mutation
CN109461473B (zh) 胎儿游离dna浓度获取方法和装置
CN113564266B (zh) Snp分型遗传标记组合、检测试剂盒及用途
WO2022029688A1 (en) Highly sensitive method for detecting cancer dna in a sample
Kubiritova et al. On the critical evaluation and confirmation of germline sequence variants identified using massively parallel sequencing
CN112513292B (zh) 基于高通量测序检测同源序列的方法和装置
Benaglio et al. Ultra high throughput sequencing in human DNA variation detection: a comparative study on the NDUFA3-PRPF31 region
CN112639129A (zh) 确定新发突变在胚胎中的遗传状态的方法和装置
CA3189557A1 (en) Highly sensitive method for detecting cancer dna in a sample
US20200075124A1 (en) Methods and systems for detecting allelic imbalance in cell-free nucleic acid samples
US20230332220A1 (en) Random insertion genome reconstruction
Vermeulen Improving and estimating Y chromosome loss in blood and brain tissues using high-throughput sequencing
Willcox et al. RNA Strain-Match: A tool for matching single-nucleus, single-cell, or bulk RNA-sequencing alignment data to its corresponding genotype
CN116705153A (zh) 确定snp检测区域的方法和对测序样本进行校正的方法
CN113528648A (zh) 基于基因突变和dna甲基化特征判定衰老程度的方法

Legal Events

Date Code Title Description
PB01 Publication
PB01 Publication
SE01 Entry into force of request for substantive examination
SE01 Entry into force of request for substantive examination
GR01 Patent grant
GR01 Patent grant