CN104302781A - 一种检测染色体结构异常的方法及装置 - Google Patents

一种检测染色体结构异常的方法及装置 Download PDF

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CN104302781A
CN104302781A CN201380004734.0A CN201380004734A CN104302781A CN 104302781 A CN104302781 A CN 104302781A CN 201380004734 A CN201380004734 A CN 201380004734A CN 104302781 A CN104302781 A CN 104302781A
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杨传春
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Abstract

一种检测染色体结构异常的方法及装置，其中方法包括：获取目标个体的全基因组测序结果，即多对位于所测染色体片段的两端的读长对；将测序结果与参考序列进行比对，获得异常匹配集，其中包括两个读长序列分别匹配到参考序列的不同染色体的读长对；按照匹配到的位置将异常匹配集中的读长序列聚类成簇；使用例如与紧致程度等相关的预置要求对聚类得到的簇进行过滤，获得过滤后的结果簇，以用于判断染色体易位性结构异常的发生。

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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。
CN201380004734.0A 2013-05-15 2013-05-15 一种检测染色体结构异常的方法及装置 Active CN104302781B (zh)

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CN106709276A (zh) * 2017-01-21 2017-05-24 深圳昆腾生物信息有限公司 一种基因变异成因分析方法及系统
CN106845155A (zh) * 2016-12-29 2017-06-13 安诺优达基因科技(北京)有限公司 一种用于检测内部串联重复的装置
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
CN108830044A (zh) * 2018-06-05 2018-11-16 上海鲸舟基因科技有限公司 用于检测癌症样本基因融合的检测方法和装置
CN109887547A (zh) * 2019-03-06 2019-06-14 苏州浪潮智能科技有限公司 一种基因序列比对滤波加速处理方法、系统及装置
CN112687341A (zh) * 2021-03-12 2021-04-20 上海思路迪医学检验所有限公司 一种以断点为中心的染色体结构变异鉴定方法
CN115831223A (zh) * 2023-02-20 2023-03-21 吉林工商学院 一种挖掘近源物种间染色体结构变异的分析方法及系统

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* Cited by examiner, † Cited by third party
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US11004538B2 (en) 2013-05-15 2021-05-11 Bgi Genomics Co., Ltd. Method and device for detecting chromosomal structural abnormalities
CN107077538B (zh) * 2014-12-10 2020-08-07 深圳华大生命科学研究院 测序数据处理装置和方法
WO2016090583A1 (zh) * 2014-12-10 2016-06-16 深圳华大基因研究院 测序数据处理装置和方法
WO2016090584A1 (zh) * 2014-12-10 2016-06-16 深圳华大基因研究院 确定肿瘤核酸浓度的方法和装置
CN107058465B (zh) * 2016-10-14 2021-10-01 南方科技大学 一种利用单倍体测序技术检测染色体平衡易位的方法
CN109280702A (zh) * 2017-07-21 2019-01-29 深圳华大基因研究院 确定个体染色体结构异常的方法和系统
CN111583996B (zh) * 2020-04-20 2023-03-28 西安交通大学 一种模型非依赖的基因组结构变异检测系统及方法
CN114743594B (zh) * 2022-03-28 2023-04-18 深圳吉因加医学检验实验室 一种用于结构变异检测的方法、装置和存储介质
CN115910199B (zh) * 2022-11-01 2023-07-14 哈尔滨工业大学 一种基于比对框架的三代测序数据结构变异检测方法

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WO2011143231A2 (en) 2010-05-10 2011-11-17 The Broad Institute High throughput paired-end sequencing of large-insert clone libraries
US11004538B2 (en) 2013-05-15 2021-05-11 Bgi Genomics Co., Ltd. Method and device for detecting chromosomal structural abnormalities

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CN101561845A (zh) * 2008-12-12 2009-10-21 深圳华大基因研究院 一种染色体同线性同源区域的检测方法和系统
CN101914628A (zh) * 2010-09-02 2010-12-15 深圳华大基因科技有限公司 检测基因组目标区域多态性位点的方法及 系统
WO2012088348A2 (en) * 2010-12-23 2012-06-28 Sequenom, Inc. Fetal genetic variation detection
WO2012097474A1 (zh) * 2011-01-20 2012-07-26 深圳华大基因科技有限公司 检测转基因外源片段插入位点的方法和系统
CN102409099A (zh) * 2011-11-29 2012-04-11 浙江大学 一种利用测序技术分析猪乳腺组织基因表达差异的方法
CN102789553A (zh) * 2012-07-23 2012-11-21 中国水产科学研究院 利用长转录组测序结果装配基因组的方法及装置

Cited By (10)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
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
CN106845155A (zh) * 2016-12-29 2017-06-13 安诺优达基因科技(北京)有限公司 一种用于检测内部串联重复的装置
CN106845155B (zh) * 2016-12-29 2021-11-16 安诺优达基因科技(北京)有限公司 一种用于检测内部串联重复的装置
CN106709276A (zh) * 2017-01-21 2017-05-24 深圳昆腾生物信息有限公司 一种基因变异成因分析方法及系统
CN108830044A (zh) * 2018-06-05 2018-11-16 上海鲸舟基因科技有限公司 用于检测癌症样本基因融合的检测方法和装置
CN108830044B (zh) * 2018-06-05 2020-06-26 序康医疗科技（苏州）有限公司 用于检测癌症样本基因融合的检测方法和装置
CN109887547A (zh) * 2019-03-06 2019-06-14 苏州浪潮智能科技有限公司 一种基因序列比对滤波加速处理方法、系统及装置
CN112687341A (zh) * 2021-03-12 2021-04-20 上海思路迪医学检验所有限公司 一种以断点为中心的染色体结构变异鉴定方法
CN112687341B (zh) * 2021-03-12 2021-06-04 上海思路迪医学检验所有限公司 一种以断点为中心的染色体结构变异鉴定方法
CN115831223A (zh) * 2023-02-20 2023-03-21 吉林工商学院 一种挖掘近源物种间染色体结构变异的分析方法及系统

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WO2014183270A1 (zh) 2014-11-20
US11004538B2 (en) 2021-05-11
EP2998407B2 (en) 2022-11-30
CN104302781B (zh) 2016-09-14
EP2998407B1 (en) 2019-12-04
ES2766860T5 (es) 2023-02-23
PL2998407T3 (pl) 2020-05-18
EP2998407A1 (en) 2016-03-23
PL2998407T5 (pl) 2023-01-30
EP2998407A4 (en) 2017-01-11
RU2015153453A (ru) 2017-06-20
ES2766860T3 (es) 2020-06-15
RU2654575C2 (ru) 2018-05-21
US20160085911A1 (en) 2016-03-24

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