公开(公告)号：WO2020198004A1

公开(公告)日：2020-10-01

申请号：PCT/US2020/023850

申请日：2020-03-20

Applicant: LIFE TECHNOLOGIES CORPORATION ,  VEITCH, James

Inventor： VEITCH, James ,  GOTTIMUKKALA, Rajesh ,  MARCOVITZ, Amir ,  SCHAGEMAN, Jeoffrey ,  BAGAI, Varun ,  GU, Jian ,  BRAMLETT, Kelli ,  MYRAND, Scott ,  HYLAND, Fiona ,  SADIS, Seth ,  WILLIAMS, Paul

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

Abstract: A method for detecting a gene fusion includes amplifying a nucleic acid sample in the presence of primer pool to produce a plurality of amplicons. The primer pool includes primers targeting a plurality of exon-exon junctions of a driver gene. The amplicons correspond to the exon-exon junctions. The amplicons are sequenced and aligned to a reference sequence. The number of reads corresponding to each amplicon is normalized to give a normalized read count. A baseline correction is applied to the normalized read counts for the amplicons to form corrected read counts. A binary segmentation score is calculated for each corrected read count. A predicted breakpoint for the gene fusion is determined based on the amplicon index corresponding to the maximum absolute binary segmentation score. Gene fusion events may be detected in a partner agnostic manner, i.e. without prior knowledge of the specific fusion partner genes or specific breakpoint information.