公开(公告)号：US20190087539A1

公开(公告)日：2019-03-21

申请号：US16136463

申请日：2018-09-20

Applicant: LIFE TECHNOLOGIES CORPORATION

Inventor： Rajesh GOTTIMUKKALA ,  Cheng-Zong BAI ,  Dumitru BRINZA ,  Jeoffrey SCHAGEMAN ,  Varun BAGAI

IPC: G06F19/22 ,  C12Q1/6853

Abstract: A method for compressing nucleic acid sequence data wherein each sequence read is associated with a molecular tag sequence, wherein a portion of the sequence reads alignments correspond to sequence reads mapped to a targeted fusion reference sequence includes determining a consensus sequence read for each family of sequence reads based on flow space signal measurements corresponding to the family of sequence reads, determining a consensus sequence alignment for each family of sequence reads, wherein a portion of the consensus sequence alignments correspond to the consensus sequence reads aligned with the targeted fusion reference sequence, generating a compressed data structure comprising consensus compressed data, the consensus compressed data including the consensus sequence read and the consensus sequence alignment for each family, and detecting a fusion using the consensus sequence reads and the consensus sequence alignments from the compressed data structure.

公开(公告)号：US20200318175A1

公开(公告)日：2020-10-08

申请号：US16825238

申请日：2020-03-20

Applicant: LIFE TECHNOLOGIES CORPORATION

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

IPC: C12Q1/6851 ,  G06F17/18 ,  G16B25/10

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.