METHODS AND SYSTEMS FOR GENOME ANALYSIS

摘要

The present disclosure provides methods and systems for prioritizing phenotype-causing genomic variants. The methods include using variant prioritization analyses and in combination with biomedical ontologies using a sophisticated re-ranking methodology to re-rank these variants based on phenotype information. The methods can be useful in any genomics study and diagnostics; for example, rare and common disease gene discovery, tumor growth mutation detection, drug responder studies, metabolic studies, personalized medicine, agricultural analysis, and centennial analysis.

主权项

1. A computer-implemented method for providing an evaluation for display on a computer-generated report, which evaluation is with respect to identifying phenotype-associated genes or genetic variants associated with a phenotype, comprising:
(a) identifying one or more genome sequence variants in a biological sample of a subject; (b) using a programmed computer processor to identify and prioritize a first set of phenotype-associated genes or genetic variants based on said one or more genome sequence variants identified in (a), wherein said first set of phenotype-causing genes or genetic variants is among a plurality of phenotype-associated genes or genetic variants in computer memory; (c) reprioritizing said first set of phenotype-associated genes or genetic variants to produce a second set of phenotype-associated genes or genetic variants based on knowledge resident in one or more biomedical ontologies, wherein said reprioritizing comprises algorithmically propagating information across or between said one or more biomedical ontologies; and (d) automatically identifying and outputting said second set of phenotype-associated genes or genetic variants for display on said computer-generated report, wherein a priority ranking associated with genes or genetic variants in said second set of phenotype-associated genes or genetic variants is improved compared to a priority ranking associated with said first set of phenotype-causing genes or genetic variants.