公开(公告)号：US20240035094A1

公开(公告)日：2024-02-01

申请号：US18366912

申请日：2023-08-08

Applicant: Life Technologies Corporation

Inventor： Charles SCAFE ,  Dumitru BRINZA ,  James VEITCH ,  Rongsu QI ,  Fiona HYLAND

IPC: C12Q1/6886 ,  G16B30/00 ,  G16B40/00 ,  G16B20/10 ,  C12Q1/6851 ,  C12Q1/6869

CPC classification number: C12Q1/6886 ,  G16B30/00 ,  G16B40/00 ,  G16B20/10 ,  C12Q1/6851 ,  C12Q1/6869 ,  G16B30/20

Abstract: A method for detecting large rearrangements in BRCA1 and BRCA2 genes includes amplifying a nucleic acid sample in the presence of a primer pool to produce amplicons, where the primer pool includes target specific primers targeting regions of exons of the BRCA1 and BRCA2 genes. The method further includes sequencing the amplicons to generate a plurality of reads, mapping the reads to a reference sequence, determining a number of reads per amplicon for the amplicons associated with the exons of the BRCA and the BRCA2 genes, determining exon copy numbers for the exons of the BRCA1 and BRCA2 genes based on the number of reads per amplicon, detecting an exon deletion or duplication based on the exon copy numbers, and detecting a whole gene deletion of the BRCA1 or BRCA2 gene based on the number of reads per amplicon associated with the exons of the BRCA1 and BRCA2 genes.