公开(公告)号：US20220205043A1

公开(公告)日：2022-06-30

申请号：US17493826

申请日：2021-10-04

Applicant: Myriad Genetics, Inc.

Inventor： Elisha Hughes ,  Alexander Gutin

IPC: C12Q1/6883 ,  G16B25/00 ,  G16B30/00 ,  C12Q1/6827

Abstract: The present disclosure relates to methods, kits, and systems for assessing the risk of a human subject for developing a cancer, including genetic risk assessment, clinical risk assessment, and combinations of both to improve risk analysis.

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

IPC: G16B20/20 ,  G16B20/00

CPC classification number: G16B20/20 ,  G16B20/00

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.

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。

公开(公告)号：US20240301500A1

公开(公告)日：2024-09-12

申请号：US18277554

申请日：2022-02-24

Applicant: MYRIAD GENETICS, INC.

Inventor： Elisha Hughes ,  Alexander Gutin ,  Jerry Lanchbury ,  Susanne Wagner

IPC: C12Q1/6886 ,  C12Q1/6874

CPC classification number: C12Q1/6886 ,  C12Q1/6874 ,  C12Q2600/106 ,  C12Q2600/118 ,  C12Q2600/156

Abstract: Provided herein are methods for assessing a risk of a trait in a subject, by selecting a plurality of ancestry-informative SNP markers based on objective design criteria, measuring a genotype of the subject, obtaining trait-associated SNP markers, and calculating a global polygenic risk score for the risk of the trait in the subject based on the plurality of ancestry-informative SNP markers and the trait-associated SNP markers. The trait can be risk of cancer. Also provided are methods for assessing ancestry of a subject.

公开(公告)号：US20230260658A1

公开(公告)日：2023-08-17

申请号：US17920013

申请日：2021-04-16

Applicant: Myriad Genetics, Inc.

Inventor： Dmitry Pruss ,  Alexander Gutin ,  Elisha Hughes ,  Jerry Lanchbury

IPC: G16H50/30 ,  G16B20/20 ,  G16B20/40 ,  G16B40/00

CPC classification number: G16H50/30 ,  G16B20/20 ,  G16B20/40 ,  G16B40/00

Abstract: Provided herein are methods for determining polygenic traits and risks for medical use, such as cancer traits and risks, as well as treating diseases for which risk is identified and/or assessed. Methods of this invention can provide a polygenic score which takes into account local ancestry through the ancestral origin of the alleles of risk loci. A polygenic score can provide surprisingly increased accuracy in determining polygenic traits and risks for ancestrally admixed populations.

公开(公告)号：US20230170045A1

公开(公告)日：2023-06-01

申请号：US17920012

申请日：2021-04-16

Applicant: Myriad Genetics, Inc.

Inventor： Shannon Gallagher ,  Elisha Hughes ,  Alexander Gutin ,  Jerry Lanchbury

IPC: G16B20/20 ,  C12Q1/6886 ,  G16H50/30

CPC classification number: G16B20/20 ,  C12Q1/6886 ,  G16H50/30 ,  C12Q2600/156

Abstract: Provided herein are methods for determining a polygenic risk score and breast cancer estimated risk for medical use, as well as for treating breast cancer. Methods of this invention can provide a polygenic risk score which takes into account a plurality of breast cancer associated SNP markers. Also provide is a comprehensive breast cancer risk estimation with increased accuracy.