Patent Document ID: 9141913
Application ID: 12398107

Base Claim:
1. A computer implemented method for evaluating a correlation between (i) a gene, a SNP, a SNP pattern, a portion of gene, a region of a genome, or a compound, and (ii) a disease or a genotype, the method comprising: providing a taxonomy of categories of diseases and/or phenotypes arranged in a hierarchical structure comprising at least one top-level category; providing, a plurality of feature sets, each feature set comprising (a) two or more features, (b) associated experimentally-derived statistical information indicating one or more of: differential expression of said features, abundance of said features, responses of said features to a treatment or stimulus, and effects of said features on biological systems, and (c) a feature rank indicating the importance of the feature in an experiment from which the statistical information was derived, wherein the features are genes, SNPs, SNP patterns, portions of genes, regions of a genome, or compounds, at least some of the features have different names but correspond to a same gene, SNP, SNP pattern, portion of gene, region of a genome, or compound, the plurality of feature sets is obtained from across different experiments, platforms, and/or organisms, and at least some of said feature sets are associated with one or more categories in the taxonomy; providing a plurality of globally unique mapping identifiers; identifying, for each globally unique mapping identifier, one or more features associated with the globally unique mapping identifier; mapping, for each globally unique mapping identifier, the identified one or more features to the globally unique mapping identifier, thereby providing mapping data indicating mapping between a plurality of features and the plurality of globally unique mapping identifiers, wherein at least some features having different names but corresponding to a same gene, SNP, SNP pattern, portion of gene, region of a genome, or compound are mapped to a same globally unique mapping identifier; storing the mapping data in an index set; identifying, for each of a plurality of the categories in the taxonomy, contributing feature sets that contribute to scoring a category under consideration by identifying all feature sets among the provided feature sets that are associated with the category under consideration and its child categories in the taxonomy; combining the feature ranks of all features in the contributing feature sets that can be mapped to a globally unique mapping identifier under consideration based on the mapping data in the index set to obtain an overall score; and evaluating a correlation between (i) a gene, a SNP, a SNP pattern, a portion of gene, a region of a genome, or a compound corresponding to the globally unique mapping identifier under consideration, and (ii) a disease or a genotype corresponding to the category under consideration based on the obtained overall score.

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Claim 7:
7. The computer-implemented method of claim 1 , wherein retrieving feature ranks comprises receiving normalized ranks of the features in the contributing feature sets.