Evaluating the use of paralogous protein domains to increase data availability for missense variant classification

ConclusionsWe propose using structurally equivalent positions across related protein domains from different genes to augment evidence for variant co-localisation when classifying novel missense variants. Additionally, we advocate adopting a numerical evidence-based approach to integrating diverse data in variant interpretation.
Source: Genome Medicine - Category: Genetics & Stem Cells Source Type: research