Invention Grant
- Patent Title: Copy number alteration and reference genome mapping
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Application No.: US15661942Application Date: 2017-07-27
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Publication No.: US11515003B2Publication Date: 2022-11-29
- Inventor: Youting Sun , Sung Kyun Kim , Mathias Ehrich , Christopher Ellison , Taylor Jensen , Amin Mazloom
- Applicant: Sequenom, Inc.
- Applicant Address: US CA San Diego
- Assignee: Sequenom, Inc.
- Current Assignee: Sequenom, Inc.
- Current Assignee Address: US CA San Diego
- Agency: Kilpatrick Townsend & Stockton LLP
- Main IPC: G16B20/10
- IPC: G16B20/10 ; G16B20/00 ; G16B20/20 ; G16B10/00

Abstract:
Technology provided herein relates in part to methods, processes, machines and apparatuses for non-invasive assessment of genomic nucleic acid instability and genomic nucleic acid stability. The method comprises providing a set of genomic portions each coupled to a copy number alteration quantification for a test sample, wherein the genomic portions comprises portions of a reference genome to which sequence reads obtained for nucleic acid from a test sample obtained from the subject have been mapped, and the copy number alteration quantification coupled to each genomic portion has been determined from a quantification of sequence reads mapped to the genomic portion; and determining, by a computing device, presence or absence of genomic instability for the subject according to the copy number alteration quantifications coupled to the genomic portions.
Public/Granted literature
- US20180032666A1 Methods for Non-Invasive Assessment of Genomic Instability Public/Granted day:2018-02-01
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