公开(公告)号：US20240257904A1

公开(公告)日：2024-08-01

申请号：US18421362

申请日：2024-01-24

Applicant: Illumina, Inc.

Inventor： Eric Roller ,  Aaron Halpern ,  Sean Truong

IPC: G16B20/10 ,  G16B30/00 ,  G16B50/30

CPC classification number: G16B20/10 ,  G16B30/00 ,  G16B50/30

Abstract: Improved copy number variant (CNV) calling in a genomic sequence, and potential recovery, includes (i) obtaining genetic sequence variant data that includes records indicating structural variant(s) (SVs) and records indicating CNV(s) in the genomic sequence, (ii) determining, based on an initial CNV indicated in the genetic sequence variant data and on initial SV(s) indicated in the genetic sequence variant data, an SV-informed CNV call as an updated version of the initial CNV, where the determining uses information from the initial SV(s) to determine a start breakpoint position and an end breakpoint position for the SV-informed CNV call, at least one of the start breakpoint position and end breakpoint position being updated, informed by the initial SV(s), in comparison to a corresponding start breakpoint position and/or end breakpoint position of the initial CNV, and (ii) writing the determined SV-informed CNV call as record(s) in a genetic sequence variant data file.