CN106795551A - 单细胞染色体的cnv分析方法和检测装置 - Google Patents

单细胞染色体的cnv分析方法和检测装置 Download PDF

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Publication number
CN106795551A
CN106795551A CN201480082248.5A CN201480082248A CN106795551A CN 106795551 A CN106795551 A CN 106795551A CN 201480082248 A CN201480082248 A CN 201480082248A CN 106795551 A CN106795551 A CN 106795551A
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breakpoint
cnv
chromosome
values
point
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CN106795551B (zh
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李剑
夏滢颖
陈大洋
甄贺富
张彩芬
张爱萍
张现东
刘赛军
李尉
黄奕乐
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BGI Shenzhen Co Ltd
BGI Genomics Co Ltd
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    • 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

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  • 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

本发明公开了一种单细胞染色体的CNV分析方法和检测装置，单细胞染色体的CNV分析方法包括以下步骤：提取有效数据的第1步骤；对所提取的有效数据进行序列比对后再判断Y染色体是否存在的第2步骤；将经过序列比对后的序列划分窗口再进行GC含量校正的第3步骤；对GC含量校正后的数据进行断点筛查的第4步骤；以及对断点筛查后的数据进行满足判断条件的数据过滤及可视化的第5步骤。

Description

PCT国内申请，说明书已公开。

Claims (10)

  1. PCT国内申请，权利要求书已公开。
CN201480082248.5A 2014-09-26 2014-09-26 单细胞染色体的cnv分析方法和检测装置 Active CN106795551B (zh)

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PCT/CN2014/087604 WO2016045106A1 (zh) 2014-09-26 2014-09-26 单细胞染色体的cnv分析方法和检测装置

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Cited By (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN110648721A (zh) * 2019-09-19 2020-01-03 北京市儿科研究所 针对外显子捕获技术检测拷贝数变异的方法及装置
CN111429966A (zh) * 2020-04-23 2020-07-17 长沙金域医学检验实验室有限公司 基于稳健线性回归的染色体拷贝数变异判别方法及装置
CN113113085A (zh) * 2021-03-15 2021-07-13 杭州杰毅生物技术有限公司 基于人工智能的用宏基因组测序数据进行肿瘤检测的分析系统及分析方法

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* Cited by examiner, † Cited by third party
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CN109979529B (zh) * 2017-12-28 2021-01-08 北京安诺优达医学检验实验室有限公司 Cnv检测装置
CN114502744B (zh) * 2019-12-11 2023-06-23 深圳华大基因股份有限公司 一种基于血液循环肿瘤dna的拷贝数变异检测方法和装置

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WO2013149385A1 (zh) * 2012-04-05 2013-10-10 深圳华大基因健康科技有限公司 一种拷贝数变异检测方法和系统
CN103403183A (zh) * 2011-06-29 2013-11-20 深圳华大基因健康科技有限公司 胎儿遗传异常的无创性检测
CN103764841A (zh) * 2011-09-21 2014-04-30 深圳华大基因健康科技有限公司 确定单细胞染色体非整倍性的方法和系统
CN103946394A (zh) * 2011-10-18 2014-07-23 姆提普力科姆公司 胎儿染色体非整倍性诊断

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WO2012141712A1 (en) * 2011-04-14 2012-10-18 Verinata Health, Inc. Normalizing chromosomes for the determination and verification of common and rare chromosomal aneuploidies
EP2563937A1 (en) * 2011-07-26 2013-03-06 Verinata Health, Inc Method for determining the presence or absence of different aneuploidies in a sample
CN104136628A (zh) * 2011-10-28 2014-11-05 深圳华大基因医学有限公司 一种检测染色体微缺失和微重复的方法
CN103215350B (zh) * 2013-03-26 2016-11-02 苏州贝康医疗器械有限公司 一种基于单核苷酸多态性位点的孕妇血浆中胎儿dna含量的测定方法

Patent Citations (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN103403183A (zh) * 2011-06-29 2013-11-20 深圳华大基因健康科技有限公司 胎儿遗传异常的无创性检测
CN103764841A (zh) * 2011-09-21 2014-04-30 深圳华大基因健康科技有限公司 确定单细胞染色体非整倍性的方法和系统
CN103946394A (zh) * 2011-10-18 2014-07-23 姆提普力科姆公司 胎儿染色体非整倍性诊断
WO2013149385A1 (zh) * 2012-04-05 2013-10-10 深圳华大基因健康科技有限公司 一种拷贝数变异检测方法和系统

Cited By (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN110648721A (zh) * 2019-09-19 2020-01-03 北京市儿科研究所 针对外显子捕获技术检测拷贝数变异的方法及装置
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
CN111429966A (zh) * 2020-04-23 2020-07-17 长沙金域医学检验实验室有限公司 基于稳健线性回归的染色体拷贝数变异判别方法及装置
CN113113085A (zh) * 2021-03-15 2021-07-13 杭州杰毅生物技术有限公司 基于人工智能的用宏基因组测序数据进行肿瘤检测的分析系统及分析方法
CN113113085B (zh) * 2021-03-15 2022-08-19 杭州杰毅生物技术有限公司 基于智能宏基因组测序数据肿瘤检测的分析系统及方法

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