Methods for partner agnostic gene fusion detection

    公开(公告)号:US12139753B2

    公开(公告)日:2024-11-12

    申请号:US16825238

    申请日:2020-03-20

    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

    公开(公告)号:US20250084470A1

    公开(公告)日:2025-03-13

    申请号:US18896256

    申请日:2024-09-25

    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.

    PROGNOSTIC ASSAY FOR SQUAMOUS CELL LUNG CARCINOMA
    6.
    发明申请
    PROGNOSTIC ASSAY FOR SQUAMOUS CELL LUNG CARCINOMA 审中-公开
    慢性细胞肺癌的预后测定

    公开(公告)号:US20140357573A1

    公开(公告)日:2014-12-04

    申请号:US14210124

    申请日:2014-03-13

    Abstract: Methods for predicting clinical outcome for a human subject diagnosed with squamous cell lung carcinoma using a panel of molecular markers that includes CDKN2A and CCND1. The markers are related to the subject's increased likelihood of a negative clinical outcome.

    Abstract translation: 使用包括CDKN2A和CCND1在内的一组分子标记物预测诊断为鳞状细胞肺癌的人类受试者的临床结果的方法。 标记与受试者增加阴性临床结果的可能性有关。

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