High Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown Significance
Carlos G. Vanoye, Reshma R. Desai, Katarina L. Fabre, Shannon L. Gallagher, F Potet, Jean‐Marc DeKeyser, Daniela Macaya, Jens Meiler, Charles R. Sanders, Alfred L. George
This study evaluates KCNQ1 variants using high-throughput electrophysiology, classifying 70% of unstudied variants and showing allele frequency is not a reliable predictor of function.
Circulation Genomic and Precision Medicine · Nov 1, 2018Peer-reviewedGenetics