Invention Grant
- Patent Title: Methods and processes for non-invasive assessment of genetic variations
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Application No.: US14781987Application Date: 2014-04-02
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Publication No.: US10930368B2Publication Date: 2021-02-23
- Inventor: Zeljko Dzakula , Chen Zhao , Cosmin Deciu
- Applicant: SEQUENOM, INC.
- Applicant Address: US CA San Diego
- Assignee: SEQUENOM, INC.
- Current Assignee: SEQUENOM, INC.
- Current Assignee Address: US CA San Diego
- Agency: Grant IP, Inc.
- International Application: PCT/US2014/032687 WO 20140402
- International Announcement: WO2014/165596 WO 20141009
- Main IPC: G16B20/00
- IPC: G16B20/00 ; G16B30/00 ; G16B40/00 ; G06F17/18

Abstract:
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.
Public/Granted literature
- US20160110497A1 METHODS AND PROCESSES FOR NON-INVASIVE ASSESSMENT OF GENETIC VARIATIONS Public/Granted day:2016-04-21
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