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.

    SYSTEMS AND METHODS FOR FLOW CELL SAMPLE ALLOCATION

    公开(公告)号:US20230047927A1

    公开(公告)日:2023-02-16

    申请号:US17400117

    申请日:2021-08-12

    申请人: Tempus Labs, Inc.

    IPC分类号: G01N35/00

    摘要: A method and system for pooling a plurality of specimens for processing, each specimen associated with a set of specimen characteristics. Each specimen is grouped based on the set of specimen characteristics, where the set of specimen characteristics includes a mass of each specimen. A set of flow cell characteristics for each flow cell included in a group of flow cells that includes at least one flow cell is identified. At least one pool is generated based on the set of specimen characteristics associated with each specimen included in the plurality of specimens and the set of flow cell characteristics for each flow cell included in the group of flow cells. Each pool is associated with a lane included in a flow cell and includes at least one specimen included in the plurality of specimens, and each lane is associated with a specimen type.

    ESTIMATION OF CIRCULATING TUMOR FRACTION USING OFF-TARGET READS OF TARGETED-PANEL SEQUENCING

    公开(公告)号:US20220328133A1

    公开(公告)日:2022-10-13

    申请号:US17527646

    申请日:2021-11-16

    申请人: Tempus Labs, Inc.

    IPC分类号: G16B30/20 G16B20/10

    摘要: Methods, systems, and software are provided for estimating a circulating tumor fraction for a test subject. Sequence reads are obtained from a panel-enriched sequencing reaction, including sequences for a first plurality of cfDNA fragments corresponding to probe sequences and a second plurality of cfDNA fragments not corresponding to probe sequences. Bin-level coverage ratios are determined from the sequences. Segments are formed by grouping adjacent bins based on similar coverage ratios and segment-level coverage ratios are determined based on bin-level coverage ratios for bins in the segment. For each simulated circulating tumor fraction in a plurality of circulating tumor fractions, segments are fitted to an integer copy state by identifying the integer copy state that best matches the segment-level coverage ratio. The circulating tumor fraction for the test subject is determined using error optimization between segment-level coverage ratios and integer copy states across the simulated circulated tumor fractions.

    MOBILE SUPPLEMENTATION, EXTRACTION, AND ANALYSIS OF HEALTH RECORDS

    公开(公告)号:US20220181029A1

    公开(公告)日:2022-06-09

    申请号:US17680292

    申请日:2022-02-25

    申请人: Tempus Labs, Inc.

    摘要: A system, method, and mobile device application are configured to capture, with a mobile device, a document such as a next generation sequencing (NGS) report that includes NGS medical information about a genetically sequenced patient. The method includes receiving, from a mobile device, an image of a medical document comprising NGS medical information of the patient, extracting a first region from the image, extracting NGS medical information of the patient from the first region into a structured dataset, the extracted NGS medical information including at least one RNA expression, correlating a portion of the extracted NGS medical information that includes the at least one RNA expression with summarized medical information from a cohort of patients similar to the patient, and generating, for display on the mobile device, a clinical decision support report comprising the summarized medical information.