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公开(公告)号：US20130317123A1
公开(公告)日：2013-11-28
申请号：US13849394
申请日：2013-03-22
Applicant: MYRIAD GENETICS, INC.
Inventor： Karla Bowles , Benoit Leclair , Saradha Rajamani , Jeffrey T. Trost , Jack W. Landon , Benjamin B. Roa
IPC: C12Q1/68
CPC classification number: C12Q1/6886 , C12Q2600/156
Abstract: Large deletions have been identified in the PMS2 gene in patients. The large deletions predispose the patients to Lynch syndrome associated cancers.
Abstract translation: 患者PMS2基因中已经发现大量缺失。 这种大的缺失使患者易患Lynch综合征相关癌症。
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公开(公告)号：US20240282407A1
公开(公告)日：2024-08-22
申请号：US18646644
申请日：2024-04-25
Applicant: Myriad Genetics, Inc.
Inventor： Dmitry Pruss , Brian Morris , Karla Bowles , Julie M. Eggington , Benjamin B. Roa , Alexander Gutin , Elisha Hughes
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.
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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
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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公开(公告)号：US20130252826A1
公开(公告)日：2013-09-26
申请号：US13849373
申请日：2013-03-22
Applicant: MYRIAD GENETICS, INC.
Inventor： Karla Bowles , Benoit Leclair , Saradha Rajamani , Jeffrey T. Trost , Jack W. Landon , Benjamin B. Roa
IPC: C12Q1/68
CPC classification number: C12Q1/6886 , C12Q2600/156
Abstract: Large deletions have been identified in the PMS2 gene in patients. The large deletions predispose the patients to Lynch syndrome associated cancers. Thus, methods for detecting the genetic variants are provided which can be used in detecting a predisposition to cancer.
Abstract translation: 患者PMS2基因中已经发现大量缺失。 这种大的缺失使患者易患Lynch综合征相关癌症。 因此，提供了用于检测遗传变体的方法，其可用于检测癌症的倾向。
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