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    SMALL MOLECULE BIOCHEMICAL PROFILING OF INDIVIDUAL SUBJECTS FOR DISEASE DIAGNOSIS AND HEALTH ASSESSMENT
    1.
    发明公开
    SMALL MOLECULE BIOCHEMICAL PROFILING OF INDIVIDUAL SUBJECTS FOR DISEASE DIAGNOSIS AND HEALTH ASSESSMENT 审中-公开
    用于疾病诊断和健康评价人的小分子生化PROFILING

    公开(公告)号：EP3129909A1

    公开(公告)日：2017-02-15

    申请号：EP15721065.9

    申请日：2015-04-08

    申请人： Metabolon, Inc.

    发明人： MILBURN, Michael V. ,  RYALS, John A. ,  GUO, Lining ,  ECKHART, Andrea ,  WULFF, Jacob ,  KENNEDY, Adam D. ,  JÖNSSON, Thomas J. ,  MICHALEK, Ryan Douglas ,  WITTMANN, Bryan ,  MITCHELL, Matthew

    IPC分类号： G06F19/28 ,  G01N33/50

    摘要： Methods and systems are described herein for small molecule biochemical profiling of an individual subject for diagnosis of a disease or disorder, facilitating diagnosis of a disease or disorder, and/or identifying an increased risk of developing a disease or disorder in the individual subject. Aberrant levels of small molecules present in a sample from an individual subject are identified and diagnostic information relevant to the individual subject is obtained based on the identified aberrant levels. The obtained diagnostic information includes one or more of an identification of at least one biochemical pathway associated with the identified subset of the small molecules having aberrant levels, an identification at least one disease or disorder associated with the identified subset of the small molecules having aberrant levels, and an identification of at least one recommended follow up test associated with the identified subset of the small molecules having aberrant levels.

    摘要翻译： 方法描述在用于疾病或病症的诊断的个体对象的小分子生物化学分析，促进疾病或病症的诊断和/或确定在显影个体受试者的疾病或病症的风险增加。 从在个体对象存在于样品中的小分子的异常水平被识别和相关的个体对象的诊断信息是基于所识别的异常水平得到。 所获得的诊断信息包括一个或多个与具有异常水平的小分子的识别的子集相关联的至少一个生化途径的标识，来识别与具有异常水平的小分子的识别的子集相关联的至少一种疾病或病症 ，并在与具有异常水平的小分子的所识别的子集相关联的至少一个推荐的后续测试的标识。

    SYSTEM, METHOD AND APPARATUS FOR DETERMINING THE EFFECT OF GENETIC VARIANTS
    4.
    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.

    发明人： LONERGAN, Shaun ,  RYALS, John, A. ,  MILBURN, Michael, V. ,  KENNEDY, Adam ,  GUO, Lining ,  LAWTON, Kay, A.

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

    CPC分类号： G01N33/50 ,  G01N2570/00 ,  G06F19/18

    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。

    DETERMINATION OF THE LIVER TOXICITY OF AN AGENT
    5.
    发明公开
    DETERMINATION OF THE LIVER TOXICITY OF AN AGENT 有权
    测定物质的肝毒性

    公开(公告)号：EP2393946A1

    公开(公告)日：2011-12-14

    申请号：EP10739188.0

    申请日：2010-02-05

    申请人： Metabolon Inc.

    发明人： MILBURN, Michael ,  GUO, Lining ,  WULFF, Jacob, Edward ,  LAWTON, Kay, A.

    IPC分类号： C12Q1/68

    CPC分类号： G01N33/5014 ,  G01N33/5067 ,  G01N33/5088

    摘要： The present invention provides various biomarkers for hepatotoxicity and various methods of using the biomarkers Some of the biomarkers within the scope of this invention are cholate, glycochenodeoxycholate, glycocholate, taurine, 3-hyroxy-2-ethylpropιonate, 4- imidazoleacetate, tyramine, anthranilate, 2'-deoxycytιdιne, N-acetyl aspartate (NAA), beta-hydroxyhexanoate, and sarcosine (N- methylglycine) The methods of using the biomarkers include exposing a first hepatocyte culture to a test agent and comparing the levels of the one or more biomarkers obtained in the first hepatocyte culture to the levels of the one or more biomarkers obtained in a second hepatocyte culture without the test agent, where differential levels of the one or more biomarkers in the first hepatocyte culture as compared to the levels in the second hepatocyte culture is indicative of the test agent being a hepatotoxicant.