- 专利标题: Methods and processes for non-invasive assessment of genetic variations
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申请号: US14781987申请日: 2014-04-02
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公开(公告)号: US10930368B2公开(公告)日: 2021-02-23
- 发明人: Zeljko Dzakula , Chen Zhao , Cosmin Deciu
- 申请人: SEQUENOM, INC.
- 申请人地址: US CA San Diego
- 专利权人: SEQUENOM, INC.
- 当前专利权人: SEQUENOM, INC.
- 当前专利权人地址: US CA San Diego
- 代理机构: Grant IP, Inc.
- 国际申请: PCT/US2014/032687 WO 20140402
- 国际公布: WO2014/165596 WO 20141009
- 主分类号: G16B20/00
- IPC分类号: G16B20/00 ; G16B30/00 ; G16B40/00 ; G06F17/18
摘要:
A method and system for analyzing circulating cell-free nucleic acids from a pregnant female with reduced bias, Counts of sequence reads mapped to portions of a reference genome are obtained. A regression model is generated that models the relationship between the counts and the GC content. The read counts are normalized according to the regression model to remove the GC bias. The normalized counts are used for further analysis, such as the detection of fetal aneuploidy.
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