Interpretation of gene and genomic variants via integrated computing and experimental deep mutation learning frameworks

摘要

Disclosed herein are embodiments of systems, methods, and computer program products for determining the phenotypic effects of identified molecular variants in a biological sample. Embodiments include receiving a molecular variant associated with a functional element within the model system. Embodiments then determine a molecular score associated with the model system. Embodiments then determine molecular and population signals associated with molecular variants based on the molecular score. Embodiments then determine a functional score for the molecular variant based on statistical learning. Embodiments then derive an evidence score for the molecular variant based on the functional score. Embodiments then determine the phenotypic effect of the molecular variant based on the functional score or evidence score.