Detection of Genetic Variants in Human Leukocyte Antigen Genes

    公开(公告)号:US20230064530A1

    公开(公告)日:2023-03-02

    申请号:US17816345

    申请日:2022-07-29

    申请人: TEMPUS LABS, INC.

    IPC分类号: G16B20/00 G16B40/20 G06N20/00

    摘要: Processes are provided for identifying somatic variants in a human leukocyte antigen (HLA) gene in a subject using analysis of next generation sequencing (NGS) data. The processes include aligning HLA sequence read data for normal samples and the HLA sequence data for a tumor sample to a patient specific HLA reference genome and performing a variant calling process on filtered aligned read data and determining somatic variants of the HLA class. A report may be generated of somatic variants of the HLA gene annotated for functional effect.