METHOD AND SYSTEM FOR FILTERING WHOLE EXOME SEQUENCE VARIANTS

摘要

A computer-implemented method, system and computer program product for filtering a plurality of exomic sequencing variants in a dataset in order to identify potential disease-causing variants is provided. The invention allows a user to obtain a shortlist of variants, diseases likely to be associated with those variants, and scores for each variant-disease association with minimal computational requirements and bioinformatics knowledge.