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    COPY NUMBER VARIANT CALLING AND RECOVERY
    7.
    发明公开
    COPY NUMBER VARIANT CALLING AND RECOVERY 审中-公开

    公开(公告)号：US20240257904A1

    公开(公告)日：2024-08-01

    申请号：US18421362

    申请日：2024-01-24

    申请人： Illumina, Inc.

    发明人： Eric Roller ,  Aaron Halpern ,  Sean Truong

    IPC分类号： G16B20/10 ,  G16B30/00 ,  G16B50/30

    CPC分类号： G16B20/10 ,  G16B30/00 ,  G16B50/30

    摘要： Improved copy number variant (CNV) calling in a genomic sequence, and potential recovery, includes (i) obtaining genetic sequence variant data that includes records indicating structural variant(s) (SVs) and records indicating CNV(s) in the genomic sequence, (ii) determining, based on an initial CNV indicated in the genetic sequence variant data and on initial SV(s) indicated in the genetic sequence variant data, an SV-informed CNV call as an updated version of the initial CNV, where the determining uses information from the initial SV(s) to determine a start breakpoint position and an end breakpoint position for the SV-informed CNV call, at least one of the start breakpoint position and end breakpoint position being updated, informed by the initial SV(s), in comparison to a corresponding start breakpoint position and/or end breakpoint position of the initial CNV, and (ii) writing the determined SV-informed CNV call as record(s) in a genetic sequence variant data file.

    Noninvasive prenatal screening using dynamic iterative depth optimization with depth-scaled variance determination
    8.
    发明授权
    Noninvasive prenatal screening using dynamic iterative depth optimization with depth-scaled variance determination 有权

    公开(公告)号：US12020779B1

    公开(公告)日：2024-06-25

    申请号：US16124033

    申请日：2018-09-06

    申请人： MYRIAD WOMEN'S HEALTH, INC.

    发明人： Dale E. Muzzey ,  Kevin R. Haas ,  Jeffrey R. Tratner ,  Kevin M. D'Auria

    IPC分类号： G16B20/20 ,  C12Q1/6827 ,  G16B20/10

    CPC分类号： G16B20/20 ,  C12Q1/6827 ,  G16B20/10

    摘要： Fetal maternal samples taken from pregnant women include both maternal cell-free DNA and fetal cell-free DNA. Described herein are methods for determining a chromosomal abnormality of a test chromosome in a fetus by analyzing a test maternal sample of a woman carrying said fetus, wherein the test maternal sample comprises fetal cell-free DNA and maternal cell-free DNA. The chromosomal abnormality can be, for example, aneuploidy or the presence of a microdeletion. In some embodiments, the chromosomal abnormality is determined by measuring a dosage of the test chromosome, determining a depth-scaled variation value correlated to an initial number of sequencing reads obtained from an assay of the test maternal sample, and determining an initial value of statistical significance for the test chromosome based on the measured dosage of the test chromosome, an expected dosage of the test chromosome, and the depth-scaled variation value.