METHODS AND SYSTEMS FOR IDENTIFICATION OF CAUSAL GENOMIC VARIANTS

摘要

The present disclosure relates to a biological context filter configured to receive a data set comprising variants, wherein the data set comprises a plurality of variants from one or more samples from one or more individuals; communicate with a database of biological information, wherein the database of biological information is a knowledge base of curated biomedical content and structured with an ontology; receive a biological function and a relationship between a predetermined variant and the biological function, and a request to filter the data set; and filter the received data set using the database of biological information to predict a subset of variants in the data set most likely related to the biological function based on the relationship by determining that each variant of the subset of variants is nearby with respect to a predetermined biological entity in the data set.