SYSTEM, METHOD AND APPARATUS FOR DETERMINING THE EFFECT OF GENETIC VARIANTS
    8.
    发明公开
    SYSTEM, METHOD AND APPARATUS FOR DETERMINING THE EFFECT OF GENETIC VARIANTS 审中-公开
    确定遗传变异效应的系统,方法和设备

    公开(公告)号:EP3215633A1

    公开(公告)日:2017-09-13

    申请号:EP15856657.0

    申请日:2015-11-04

    申请人: Metabolon, Inc.

    IPC分类号: C12Q1/06 G01N33/48 G01N31/00

    摘要: Methods using a combination of metabolomics and computer technology to determine sequence variants with potential negative or detrimental effects and enable the classification of a variant with an unknown or uncertain clinical significance from VUS status to benign, pathogenic or advantageous are described. For example, methods of using metabolomics to expedite personalized medicine based on genomic sequence analysis are described. Using metabolic profiles to determine (or aid in determining) the significance of genetic variants and enable the identification of diagnostic variants (those variants having a detrimental health affect) for use in personalized medicine is described. Further, using metabolic profiles to determine the presence of advantageous variants that may have a positive effect on patient health is also described.

    摘要翻译: 描述了使用代谢组学和计算机技术的组合来确定具有潜在负面或有害作用的序列变体,并且能够将具有未知或不确定临床显着性的变体从VUS状态分类为良性,致病性或有利的方法。 例如,描述了使用代谢组学来加速基于基因组序列分析的个性化药物的方法。 描述了使用代谢谱来确定(或帮助确定)遗传变异体的重要性并且能够鉴定用于个性化医学的诊断变体(那些具有有害健康影响的变体)。 此外,还描述了使用代谢谱来确定可能对患者健康有积极影响的有利变体的存在。