公开(公告)号：US20200075124A1

公开(公告)日：2020-03-05

申请号：US16560752

申请日：2019-09-04

Applicant: GUARDANT HEALTH, INC.

Inventor： Jing Zhao ,  Stephen FAIRCLOUGH ,  Tracy NANCE ,  Jie YIN

IPC: G16B20/20 ,  C12Q1/6827 ,  G16B30/20 ,  G16B30/10 ,  G16B50/30

Abstract: The present disclosure provides methods and systems for detecting an allelic imbalance in a sample from a subject, comprising: (a) sequencing cell-free DNA molecules from the sample to generate sequence reads; (b) aligning at least a portion of the sequence reads to a reference sequence to produce aligned sequence reads; (c) for at least a portion of the plurality of aligned sequence reads, identifying a germline variant present at a mutant allele fraction (MAF) in the sample, thereby identifying a set of germline variants in the sample, wherein individual germline variants in the set of germline variants have corresponding MAF values; (d) determining a quantitative measure of the set of germline variants that are among a plurality of discrete ranges of MAF values; and (e) detecting the allelic imbalance based on a predetermined criterion by filtering the set of germline variants based on at least the quantitative measure.