CN104221022A - 一种拷贝数变异检测方法和系统 - Google Patents

一种拷贝数变异检测方法和系统 Download PDF

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CN104221022A
CN104221022A CN201280066929.3A CN201280066929A CN104221022A CN 104221022 A CN104221022 A CN 104221022A CN 201280066929 A CN201280066929 A CN 201280066929A CN 104221022 A CN104221022 A CN 104221022A
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李旭超
陈盛培
陈芳
谢伟伟
汪建
王俊
杨焕明
张秀清
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BGI Shenzhen Co Ltd
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Abstract

本发明公开一种基因组拷贝数变异检测方法和系统，涉及生物信息学技术领域。该方法包括：获得读序；根据读序确定序列标签；统计落入各个窗口的序列标签数目；对各个窗口的序列标签数目进行GC校正并根据以对照样本集修正的期望序列标签数目进行修正获得调整后的序列标签数目；选取显著性值较小的分界点为候选的CNV断点；每次剔除最不显著的候选CNV断点并更新被剔除的候选CNV断点左右两个候选CNV断点的差异显著性值，循环迭代，直至所有候选CNV断点的差异显著性值都小于终止阈值，从而确定CNV断点。本发明的方法和系统，具有临床可行性，在使用50M左右的数据情况下，可精确检测到0.5M的微缺失/微重复区域。

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PCT国内申请，说明书已公开。

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  1. PCT国内申请，权利要求书已公开。
CN201280066929.3A 2012-04-05 2012-04-05 一种拷贝数变异检测方法和系统 Active CN104221022B (zh)

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CN105760712A (zh) * 2016-03-01 2016-07-13 西安电子科技大学 一种基于新一代测序的拷贝数变异检测方法
CN106520940A (zh) * 2016-11-04 2017-03-22 深圳华大基因研究院 一种染色体非整倍体和拷贝数变异检测方法及其应用
CN108256289A (zh) * 2018-01-17 2018-07-06 湖南大地同年生物科技有限公司 一种基于目标区域捕获测序基因组拷贝数变异的方法
CN108292327A (zh) * 2015-11-18 2018-07-17 索菲亚遗传股份有限公司 下一代测序中检测拷贝数变异的方法
CN108415886A (zh) * 2018-03-07 2018-08-17 清华大学 一种基于生产工序的数据标签纠错方法及装置
CN108664766A (zh) * 2018-05-18 2018-10-16 广州金域医学检验中心有限公司 拷贝数变异的分析方法、分析装置、设备及存储介质
CN109097457A (zh) * 2017-06-20 2018-12-28 深圳华大智造科技有限公司 确定核酸样本中预定位点突变类型的方法
CN110268044A (zh) * 2017-03-07 2019-09-20 深圳华大生命科学研究院 一种染色体变异的检测方法及装置
CN111261225A (zh) * 2020-02-06 2020-06-09 西安交通大学 一种基于二代测序数据的反转相关复杂变异检测方法
CN112365927A (zh) * 2017-12-28 2021-02-12 安诺优达基因科技(北京)有限公司 Cnv检测装置
WO2021114139A1 (zh) * 2019-12-11 2021-06-17 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
CN114758720A (zh) * 2022-06-14 2022-07-15 北京贝瑞和康生物技术有限公司 用于检测拷贝数变异的方法、设备和介质
CN114999573A (zh) * 2022-04-14 2022-09-02 哈尔滨因极科技有限公司 一种基因组变异检测方法及检测系统
CN116386718A (zh) * 2023-05-30 2023-07-04 北京华宇亿康生物工程技术有限公司 检测拷贝数变异的方法、设备和介质

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CN104745718A (zh) * 2015-04-23 2015-07-01 北京嘉宝仁和医疗科技有限公司 一种检测人类胚胎染色体微缺失和微重复的方法
CN108292327A (zh) * 2015-11-18 2018-07-17 索菲亚遗传股份有限公司 下一代测序中检测拷贝数变异的方法
CN105760712A (zh) * 2016-03-01 2016-07-13 西安电子科技大学 一种基于新一代测序的拷贝数变异检测方法
CN105760712B (zh) * 2016-03-01 2019-03-26 西安电子科技大学 一种基于新一代测序的拷贝数变异检测方法
CN106520940A (zh) * 2016-11-04 2017-03-22 深圳华大基因研究院 一种染色体非整倍体和拷贝数变异检测方法及其应用
CN110268044A (zh) * 2017-03-07 2019-09-20 深圳华大生命科学研究院 一种染色体变异的检测方法及装置
CN110268044B (zh) * 2017-03-07 2022-08-02 深圳华大生命科学研究院 一种染色体变异的检测方法及装置
CN109097457A (zh) * 2017-06-20 2018-12-28 深圳华大智造科技有限公司 确定核酸样本中预定位点突变类型的方法
CN112365927A (zh) * 2017-12-28 2021-02-12 安诺优达基因科技(北京)有限公司 Cnv检测装置
CN112365927B (zh) * 2017-12-28 2023-08-25 安诺优达基因科技(北京)有限公司 Cnv检测装置
CN108256289A (zh) * 2018-01-17 2018-07-06 湖南大地同年生物科技有限公司 一种基于目标区域捕获测序基因组拷贝数变异的方法
CN108256289B (zh) * 2018-01-17 2020-10-16 湖南大地同年生物科技有限公司 一种基于目标区域捕获测序基因组拷贝数变异的方法
CN108415886B (zh) * 2018-03-07 2019-04-05 清华大学 一种基于生产工序的数据标签纠错方法及装置
CN108415886A (zh) * 2018-03-07 2018-08-17 清华大学 一种基于生产工序的数据标签纠错方法及装置
CN108664766A (zh) * 2018-05-18 2018-10-16 广州金域医学检验中心有限公司 拷贝数变异的分析方法、分析装置、设备及存储介质
CN114502744A (zh) * 2019-12-11 2022-05-13 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
WO2021114139A1 (zh) * 2019-12-11 2021-06-17 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
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
CN111261225A (zh) * 2020-02-06 2020-06-09 西安交通大学 一种基于二代测序数据的反转相关复杂变异检测方法
CN114999573A (zh) * 2022-04-14 2022-09-02 哈尔滨因极科技有限公司 一种基因组变异检测方法及检测系统
CN114758720A (zh) * 2022-06-14 2022-07-15 北京贝瑞和康生物技术有限公司 用于检测拷贝数变异的方法、设备和介质
CN114758720B (zh) * 2022-06-14 2022-09-02 北京贝瑞和康生物技术有限公司 用于检测拷贝数变异的方法、设备和介质
CN116386718A (zh) * 2023-05-30 2023-07-04 北京华宇亿康生物工程技术有限公司 检测拷贝数变异的方法、设备和介质
CN116386718B (zh) * 2023-05-30 2023-08-01 北京华宇亿康生物工程技术有限公司 检测拷贝数变异的方法、设备和介质

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