Evaluating the use of paralogous protein domains to increase data availability for missense variant classification.
Adam Colin GunningCaroline Fiona WrightPublished in: Genome medicine (2023)
We 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.