Adopting High-Resolution Allele Frequencies Substantially Expedites Variant Interpretation in Genetic Diagnostic Laboratories

A cohort of 1,242 individuals tested in a clinical diagnostic laboratory was used to test whether the “Filtering Allele Frequencies” (FAFs)-based framework, recently recommended for MHY7-associated cardiomyopathy, is extendable to 45 cardiomyopathy genes. Statistical analysis revealed a threshold of 0.00164% for the extreme outlier allele frequencies (AFs), based on the gnomAD (exome fraction) t otal AFs of 138 unique pathogenic and likely pathogenic variants; 135 of which (97.8%) had AFs

Source: Journal of Molecular Diagnostics - April 23, 2019 Category: Pathology Authors: Mahdi Ghani, Landry Nfonsam, Erinija Pranckeviciene, Hussein Daoud, Ryan Potter, Caitlin Chisholm, Patricia E. Harper, Audrey Schaffer, Leichelle Little, Elizabeth Sinclair-Bourque, Jean McGowan-Jordan, Amanda Smith, Lucas Bronicki, Olga Jarinova Tags: Regular article Source Type: research