The accurate interpretation of variation in Mendelian disease genes has lagged behind data generation, as sequencing has become increasingly accessible. Ongoing sequencing efforts present huge interpretive challenges, but also provide an invaluable opportunity. 

Prof Cook will be discussing analysis of sequence data from 7,855 clinical cardiomyopathy cases and 60,706 population controls undertaken to better understand genetic variation for inherited heart muscle diseases. Some genes previously reported as disease-causing are most likely not, but clinical laboratories are also under-reporting pathogenic variants.