CN110462056A - 基于dna测序数据的样本来源检测方法、装置和存储介质 - Google Patents

基于dna测序数据的样本来源检测方法、装置和存储介质 Download PDF

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CN110462056A
CN110462056A CN201780089043.3A CN201780089043A CN110462056A CN 110462056 A CN110462056 A CN 110462056A CN 201780089043 A CN201780089043 A CN 201780089043A CN 110462056 A CN110462056 A CN 110462056A
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CN110462056B (zh
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梁瀚
李甫强
吴逵
赵鑫
乔斯坦
史旭莲
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BGI Shenzhen Co Ltd
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    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
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Abstract

一种基于DNA测序数据的样本来源检测方法、装置和存储介质，该方法包括：分别将同一来源的多个样本的DNA测序数据比对到参考基因组上，分别统计参考基因组上每个窗口中的测序深度，并生成深度曲线；从同一来源的多个样本的深度曲线中提取相似曲线片段集合；对于两两不同来源的相似曲线片段集合，计算每一曲线片段分别属于这两个不同来源的集合的权重，并过滤掉权重低于设定阈值的曲线片段，得到两两互补有效曲线片段集合；将待测样本深度曲线与两两互补有效曲线片段集合进行比较，根据待测样本深度曲线分别与两两互补有效曲线片段集合的匹配程度判断待测样本的来源。本方法直接从DNA测序数据的比对结果搜索不同组织的特征，从而对样本来源进行预测。

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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。
CN201780089043.3A 2017-05-19 2017-05-19 基于dna测序数据的样本来源检测方法、装置和存储介质 Active CN110462056B (zh)

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CN110504014B (zh) * 2019-08-20 2022-03-11 福州大学 一种具有实时反馈功能的颈椎康复训练信息管理方法及系统
WO2023236058A1 (zh) * 2022-06-07 2023-12-14 深圳华大生命科学研究院 肺结节筛查模型的组建方法和装置以及肺结节筛查方法和装置

Citations (9)

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US20120003634A1 (en) * 2010-02-19 2012-01-05 Nucleix Identification of source of dna samples
CN103955630A (zh) * 2014-03-26 2014-07-30 田埂 制备参考数据库及对待测游离核酸样本进行目标区域序列比对的方法
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US20160017419A1 (en) * 2014-07-18 2016-01-21 The Chinese University Of Hong Kong Methylation pattern analysis of tissues in a dna mixture
CN105349678A (zh) * 2015-12-03 2016-02-24 上海美吉生物医药科技有限公司 一种染色体拷贝数变异的检测方法
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
CN105765076A (zh) * 2013-12-17 2016-07-13 深圳华大基因股份有限公司 一种染色体非整倍性检测方法及装置
WO2016183106A1 (en) * 2015-05-11 2016-11-17 Natera, Inc. Methods and compositions for determining ploidy
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US20120003634A1 (en) * 2010-02-19 2012-01-05 Nucleix Identification of source of dna samples
JP2014530629A (ja) * 2011-10-28 2014-11-20 ビージーアイダイアグノーシス カンパニー リミテッドＢｇｉ Ｄｉａｇｎｏｓｉｓ Ｃｏ．， Ｌｔｄ． 染色体の微細欠失及び微細重複を検出する方法
CN105765076A (zh) * 2013-12-17 2016-07-13 深圳华大基因股份有限公司 一种染色体非整倍性检测方法及装置
CN103955630A (zh) * 2014-03-26 2014-07-30 田埂 制备参考数据库及对待测游离核酸样本进行目标区域序列比对的方法
US20160017419A1 (en) * 2014-07-18 2016-01-21 The Chinese University Of Hong Kong Methylation pattern analysis of tissues in a dna mixture
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
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* Cited by examiner, † Cited by third party
Title
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