METHODS AND COMPUTER PROGRAM PRODUCTS FOR COMPRESSION OF SEQUENCING DATA
    1.
    发明申请
    METHODS AND COMPUTER PROGRAM PRODUCTS FOR COMPRESSION OF SEQUENCING DATA 有权
    用于压缩数据的方法和计算机程序产品

    公开(公告)号:US20130231870A1

    公开(公告)日:2013-09-05

    申请号:US13754566

    申请日:2013-01-30

    CPC classification number: H03M7/30 G06F19/24

    Abstract: A compression method includes measuring a waveform associated with a chemical event occurring on a sensor array, wherein the waveform comprises at least one region associated with expected measured values and at least one region associated with unpredictable measured values; applying a first compression process to the waveform, the first compression process including an averaging of one or more frames in one or more portions of the waveform; and applying a second compression process to the waveform, the second compression process including a truncating of data corresponding to a portion of the waveform that is not related to a nucleotide incorporation component of the waveform.

    Abstract translation: 压缩方法包括测量与传感器阵列上发生的化学事件相关联的波形,其中所述波形包括与预期测量值相关联的至少一个区域和与不可预测的测量值相关联的至少一个区域; 对所述波形应用第一压缩处理,所述第一压缩处理包括所述波形的一个或多个部分中的一个或多个帧的平均值; 以及对所述波形应用第二压缩处理,所述第二压缩处理包括对应于与所述波形的核苷酸掺入成分无关的所述波形的一部分的数据的截断。

    METHODS FOR ASSESSING GENOMIC INSTABILITY
    2.
    发明公开

    公开(公告)号:US20240006019A1

    公开(公告)日:2024-01-04

    申请号:US18343857

    申请日:2023-06-29

    Inventor: Mohit GUPTA

    CPC classification number: G16B20/10 G16B20/20

    Abstract: Methods for assessing genomic instability (GI) may include selectively amplifying nucleic acid sequences at targeted locations in a tumor sample genome by a targeted panel with a low sample input to generate a plurality of nucleic acid sequence reads; dividing the genome into segments having homogeneous copy numbers using log odds of heterozygous SNPs and CNV log ratios determined for the nucleic acid sequence reads; applying a threshold count to squared allelic log odds of each segment in autosomes of the genome to identify unbalanced copy number (UCN) segments; adding numbers of bases in the UCN segments to produce a sum of UCN bases; and dividing the sum of UCN bases by the total number of bases in all the segments identified in the autosomes of the sample genome to produce a ratio indicative of genomic instability. The ratio may be expressed as a percent to give a GI score.

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