CN110648721B - 针对外显子捕获技术检测拷贝数变异的方法及装置 - Google Patents
针对外显子捕获技术检测拷贝数变异的方法及装置 Download PDFInfo
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CN111210873B (zh) * | 2020-01-14 | 2023-03-28 | 西安交通大学 | 基于外显子测序数据的拷贝数变异检测方法及系统、终端和存储介质 |
CN111508559B (zh) * | 2020-04-21 | 2021-08-13 | 北京橡鑫生物科技有限公司 | 检测目标区域cnv的方法及装置 |
CN113257353B (zh) * | 2021-06-24 | 2021-10-15 | 北京橡鑫生物科技有限公司 | 基于reads深度进行目的基因外显子水平缺失检测的方法及装置 |
CN113284558B (zh) * | 2021-07-02 | 2024-03-12 | 赛福解码(北京)基因科技有限公司 | 一种区分rna测序数据中基因表达差异与长拷贝数变异的方法 |
CN113793641B (zh) * | 2021-09-29 | 2023-11-28 | 苏州赛美科基因科技有限公司 | 一种从fastq文件中快速判断样本性别的方法 |
CN115713971B (zh) * | 2022-09-28 | 2024-01-23 | 上海睿璟生物科技有限公司 | 靶向序列捕获探针设计策略选择方法、系统及终端 |
CN117095744A (zh) * | 2023-08-21 | 2023-11-21 | 上海信诺佰世医学检验有限公司 | 一种基于单样本高通量转录组测序数据的拷贝数变异检测方法 |
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