METHODS AND SYSTEMS FOR GENETIC ANALYSIS
    2.
    发明公开

    公开(公告)号:EP4414990A3

    公开(公告)日:2024-11-06

    申请号:EP24159457.1

    申请日:2013-12-27

    申请人: Personalis, Inc.

    摘要: This disclosure provides systems and methods for sample processing and data analysis. Sample processing may include nucleic acid sample processing and subsequent sequencing. Some or all of a nucleic acid sample may be sequenced to provide sequence information, which may be stored or otherwise maintained in an electronic storage location. The sequence information may be analyzed with the aid of a computer processor, and the analyzed sequence information may be stored in an electronic storage location that may include a pool or collection of sequence information and analyzed sequence information generated from the nucleic acid sample. Methods and systems of the present disclosure can be used, for example, for the analysis of a nucleic acid sample, for producing one or more libraries, and for producing biomedical reports. Methods and systems of the disclosure can aid in the diagnosis, monitoring, treatment, and prevention of one or more diseases and conditions.

    MOLECULAR LABEL COUNTING ADJUSTMENT METHODS
    3.
    发明公开

    公开(公告)号:EP4407625A3

    公开(公告)日:2024-10-23

    申请号:EP24169193.0

    申请日:2017-05-25

    IPC分类号: G16B30/00 G16B40/00 G16B40/10

    摘要: Disclosed herein are methods and systems for determining the numbers of targets. In some embodiments, the method comprise: stochastically barcoding targets using stochastic barcodes; obtaining sequencing data; for one or more of the targets: counting the number of molecular labels with distinct sequences associated with the target in the sequencing data; identifying clusters of molecular labels of the target using directional adjacency; collapsing the sequencing data using the clusters of molecular labels of the target identified; and estimating the number of the target.