中科微点-全球专利检索

  1. Login
  2. Sign Up

Search Results

11 records (took 0.03 seconds)

    METHODS FOR PARTNER AGNOSTIC GENE FUSION DETECTION
    1.
    发明申请
    METHODS FOR PARTNER AGNOSTIC GENE FUSION DETECTION 有权

    公开(公告)号：US20250084470A1

    公开(公告)日：2025-03-13

    申请号：US18896256

    申请日：2024-09-25

    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.

    Methods for partner agnostic gene fusion detection
    2.
    发明授权
    Methods for partner agnostic gene fusion detection 有权

    公开(公告)号：US12139753B2

    公开(公告)日：2024-11-12

    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: C12Q1/68 ,  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.

Patent Agency Ranking