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    • 3. 发明申请
    • ORTHOLOGOUS PHENOTYPES AND NON-OBVIOUS HUMAN DISEASE MODELS
    • 正确的基因和非特异性人类疾病模型
    • WO2011008769A3
    • 2011-05-19
    • PCT/US2010041840
    • 2010-07-13
    • UNIV TEXASMARCOTTE EDWARDMCGARY KRISTONWALLINGFORD JOHNPARK TAE JOOCHA HYE JIWOODS JOHN O
    • MARCOTTE EDWARDMCGARY KRISTONWALLINGFORD JOHNPARK TAE JOOCHA HYE JIWOODS JOHN O
    • C12Q1/68G06F17/00
    • G06F19/18
    • A method for the quantification of equivalence between mutational phenotypes to develop non-obvious human disease models is described herein. The present inventors discover candidate genes for diseases of interest by : first, identifying orthologous phenotypes (called phenologs) involving the phenotype of interest (the first phenotype), in which a set of genes is associated with the first phenotype in the first organism, a set of genes is associated with a second phenotype in a second organism, the first and second phenotypes not having one or more common characteristics, and the second phenotype is selected such that at least one gene belongs to both the first and second phenotype gene sets; second, selecting from the second organism one or more second phenotype genes, other than the genes known to overlap the first and second phenotypes, as candidates for also belonging to the first phenotype in the first organism.
    • 本文描述了用于定量突变表型之间的等同性以开发非明显的人类疾病模型的方法。 本发明人通过以下方法发现感兴趣疾病的候选基因:首先,鉴定涉及感兴趣的表型(第一表型)的直系同源异型(称为表型),其中一组基因与第一生物体中的第一表型相关, 一组基因与第二生物体中的第二表型相关联,第一和第二表型不具有一个或多个共同特征,并且选择第二表型使得至少一个基因属于第一和第二表型基因组; 第二,从第二生物体中选择除了已知与第一和第二表型重叠的基因之外的一个或多个第二表型基因作为也属于第一生物体中的第一表型的候选物。