MICROSATELLITE INSTABILITY DETECTION IN CELL-FREE DNA

    公开(公告)号:US20210363586A1

    公开(公告)日:2021-11-25

    申请号:US16907034

    申请日:2019-08-30

    Abstract: Provided herein are methods for determining the microsatellite instability status of samples. In one aspect, the methods include quantifying a number of different repeat lengths present at each of a plurality of microsatellite loci from sequence information to generate a site score for each of the plurality of the microsatellite loci. The methods also include comparing the site score of a given microsatellite locus to a site specific trained threshold for the given microsatellite locus for each of the plurality of the microsatellite loci and calling the given microsatellite locus as being unstable when the site score of the given microsatellite locus exceeds the site specific trained threshold for the given microsatellite locus to generate a microsatellite instability score, which includes a number of unstable microsatellite loci from the plurality of the microsatellite loci.

    MICROSATELLITE INSTABILITY DETECTION IN CELL-FREE DNA

    公开(公告)号:US20240247319A1

    公开(公告)日:2024-07-25

    申请号:US18500890

    申请日:2023-11-02

    CPC classification number: C12Q1/6886 G16B20/20 G16B30/10 G16B40/20

    Abstract: Provided herein are methods for determining the microsatellite instability status of samples. In one aspect, the methods include quantifying a number of different repeat lengths present at each of a plurality of microsatellite loci from sequence information to generate a site score for each of the plurality of the microsatellite loci. The methods also include comparing the site score of a given microsatellite locus to a site specific trained threshold for the given microsatellite locus for each of the plurality of the microsatellite loci and calling the given microsatellite locus as being unstable when the site score of the given microsatellite locus exceeds the site specific trained threshold for the given microsatellite locus to generate a microsatellite instability score, which includes a number of unstable microsatellite loci from the plurality of the microsatellite loci.

    MICROSATELLITE INSTABILITY DETECTION IN CELL-FREE DNA

    公开(公告)号:US20230416843A1

    公开(公告)日:2023-12-28

    申请号:US18456362

    申请日:2023-08-25

    CPC classification number: C12Q1/6886 G16B30/10 G16B20/20 G16B40/20

    Abstract: Provided herein are methods for determining the microsatellite instability status of samples. In one aspect, the methods include quantifying a number of different repeat lengths present at each of a plurality of microsatellite loci from sequence information to generate a site score for each of the plurality of the microsatellite loci. The methods also include comparing the site score of a given microsatellite locus to a site specific trained threshold for the given microsatellite locus for each of the plurality of the microsatellite loci and calling the given microsatellite locus as being unstable when the site score of the given microsatellite locus exceeds the site specific trained threshold for the given microsatellite locus to generate a microsatellite instability score, which includes a number of unstable microsatellite loci from the plurality of the microsatellite loci.

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