GitHub repository: paulocilasjr/FYI_Functional-Assay-Integration
Primary language: R
Description: We have collected, curated, and harmonized functional data for 2,701 missense variants in BRCA1. Results were harmonized across studies by converting data into binary categorical variables (functional impact versus no functional impact). Using a panel of reference variants we identified a subset of assays with high sensitivity and specificity (≥ 80%) and apply the ACMG/AMP variant interpretation guidelines to assign evidence criteria for classification.