公开(公告)号：US20200251178A1

公开(公告)日：2020-08-06

申请号：US16780249

申请日：2020-02-03

Applicant: The Board of Trustees of the Leland Stanford Junior University

Inventor： Frederick Dewey ,  Euan A. Ashley ,  James Priest ,  Megan Grove

IPC: G16B20/00 ,  G16B30/00

Abstract: High throughput sequencing has facilitated a precipitous drop in the cost of whole genome human DNA sequencing, prompting predictions of a revolution in medicine via personalization of diagnostic and therapeutic strategies to individual genetics. Disclosed is a comprehensive series of methods for identification of genetic variants and medical genotypes, phasing genetic data and using Mendelian inheritance for quality control, and providing predictive genetic information about risk for rare disease phenotypes and response to pharmacological therapy in single individuals and father-mother-child trios.

公开(公告)号：US20150261913A1

公开(公告)日：2015-09-17

申请号：US14645312

申请日：2015-03-11

Applicant: The Board of Trustees of the Leland Stanford, Junior, University

Inventor： Frederick Dewey ,  Euan A. Ashley ,  James Priest ,  Megan Grove

IPC: G06F19/18 ,  G06F19/22

CPC classification number: G16B20/00 ,  G16B30/00

Abstract: High throughput sequencing has facilitated a precipitous drop in the cost of whole genome human DNA sequencing, prompting predictions of a revolution in medicine via personalization of diagnostic and therapeutic strategies to individual genetics. Disclosed is a comprehensive series of methods for identification of genetic variants and medical genotypes, phasing genetic data and using Mendelian inheritance for quality control, and providing predictive genetic information about risk for rare disease phenotypes and response to pharmacological therapy in single individuals and father-mother-child trios.

Abstract translation: 高通量测序有助于全基因组人类DNA测序的成本急剧下降，从而通过个体化诊断和治疗策略对个体遗传学进行预测医学革命。 公开了一系列综合遗传变异和医学基因型鉴定方法，分期遗传数据和孟德尔遗传用于质量控制，并提供了关于罕见疾病表型风险的预测遗传信息和对单个个体和父亲母亲的药物治疗反应 小孩三人组