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    METHODS AND MATERIALS FOR ASSESSING LOSS OF HETEROZYGOSITY
    61.
    发明申请
    METHODS AND MATERIALS FOR ASSESSING LOSS OF HETEROZYGOSITY 审中-公开

    公开(公告)号：US20200010913A1

    公开(公告)日：2020-01-09

    申请号：US16576643

    申请日：2019-09-19

    Applicant: MYRIAD GENETICS, INC.

    Inventor： Victor Abkevich ,  Alexander Gutin ,  Kirsten Timms ,  Jerry Lanchbury

    IPC: C12Q1/6886

    Abstract: This document provides methods and materials involved in assessing samples (e.g., cancer cells) for the presence of a loss of heterozygosity (LOH) signature. For example, methods and materials for determining whether or not a cell (e.g., a cancer cell) contains an LOH signature are provided. Materials and methods for identifying cells (e.g., cancer cells) having a deficiency in homology directed repair (HDR) as well as materials and methods for identifying cancer patients likely to respond to a particular cancer treatment regimen also are provided.

    ELECTRONIC VARIANT CLASSIFICATION
    67.
    发明申请
    ELECTRONIC VARIANT CLASSIFICATION 审中-公开
    电子变体分类

    公开(公告)号：US20140278135A1

    公开(公告)日：2014-09-18

    申请号：US14209703

    申请日：2014-03-13

    Applicant: Myriad Genetics, Inc.

    Inventor： Dmitry Pruss ,  Brian Morris ,  Karla Bowles ,  Julie M. Eggington ,  Benjamin B. Roa ,  Alexander Gutin ,  Elisha Hughes

    IPC: G06F19/18 ,  G06F19/00

    CPC classification number: G16B20/00 ,  G06F19/34

    Abstract: A computer-implemented method is discussed that includes identifying, by a computer server system, stored electronic data that represents genetic sequencing for one or more genes for individuals in a population of patients who have submitted to genetic sequencing; generating, for each of multiple individuals and from the stored electronic data, probability data for the individuals and probability or weighting data, or both, for relatives of the individuals, the probability data representing likelihoods that a particular person corresponding to the probability data carries a deleterious mutation in a particular gene; and generating a score for a genetic variant, wherein the score is a function of probability or weighting data, or both, for the individuals and for relatives of the individuals, and the score represent a composite probability that a certain variant is a deleterious or benign variant.

    Abstract translation: 讨论了一种计算机实现的方法，其包括由计算机服务器系统识别代表已经进行遗传测序的患者群体中的个体的一个或多个基因的遗传测序的存储的电子数据; 为个人的个人和存储的电子数据生成个人的概率数据和个人的亲属的概率或加权数据或两者，表示对应于概率数据的特定人物的可能性携带的概率数据 特定基因中的有害突变; 以及为遗传变异产生得分，其中所述得分是所述个体和所述个体的亲属的概率或加权数据或两者的函数，并且所述分数表示某个变体是有害或良性的复合概率 变体。

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