Title:
SENSITIVELY DETECTING COPY NUMBER VARIATIONS (CNVS) FROM CIRCULATING CELL-FREE NUCLEIC ACID
Document Type and Number:
WIPO Patent Application WO/2020/041611
Kind Code:
A8
Abstract:
The present disclosure provides methods and systems for detecting or inferring levels of Copy Number Variants (CNVs) in cell-free nucleic acid samples to detect or assess cancer and prenatal diseases. Cell-free nucleic acid methylation sequencing data may be utilized to distinguish tumor-derived or fetal-derived sequencing reads from normal cfDNA sequencing reads. Each cell-free nucleic acid sequencing read (e.g., containing tumor or fetal methylation markers) may be classified as corresponding to a tumor/fetal-derived or a normal-plasma cell-free nucleic acid, based on the methylation cfDNA sequencing data (e.g., obtained using Bisulfite sequencing or bisulfite-free sequencing methods) and tumor/fetal methylation markers. Next, a profile of the tumor/fetal-derived sequencing read counts may be constructed and then normalized. The CNV status (e.g., gain or loss) of each genomic region may be inferred, and a diagnosis or prognosis can be made based on a subject's inferred CNV profile.
Inventors:
ZHOU XIANGHONG (US)
LI WENYUAN (US)
LI SHUO (US)
LIU CHUN-CHI (US)
NI XIAOHUI (US)
LI WENYUAN (US)
LI SHUO (US)
LIU CHUN-CHI (US)
NI XIAOHUI (US)
Application Number:
PCT/US2019/047741
Publication Date:
March 11, 2021
Filing Date:
August 22, 2019
Export Citation:
Assignee:
UNIV CALIFORNIA (US)
EARLYDIAGNOSTICS INC (US)
EARLYDIAGNOSTICS INC (US)
International Classes:
G16B30/00; G16B20/10; G16B40/00
Attorney, Agent or Firm:
GREESON, Robert et al. (US)
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