Importance

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Abstract

A computer program product, disposed on a non-transitory computer readable media, for analyzing a biological relevance of a candidate gene to a human phenotype is provided. The product includes computer executable process steps operable to control a computer to receive an input phenotype comprised of a plurality of input human traits and at least one input candidate gene; identify a plurality of disease-linked genes by querying disease-linked gene data and identifying genes causally linked to at least one disease; provide values of a semantic similarity metric for a identified gene set with respect to the input phenotype based on a comparison of human traits linked to each gene of the identified gene set and the input human traits, the identified gene set including genes mechanistically related to the input candidate gene that are included in the identified disease-linked genes; and output a statistical measure indicating whether the values of the semantic similarity metric of the genes of the identified gene set with respect to the input phenotype are greater than the values of the semantic similarity metric of others of the identified disease-linked genes with respect to the input phenotype by a statistically significant amount.

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First Claim