https://wp.unil.ch/genomeeee/2016/12/08/exac-presents-a-catalogue-of-human-protein-coding-genetic-variation/ Blog of a tutorial of Ecole doctorale de biologie UNIL Mon, 08 Nov 2021 16:12:29 +0000 hourly 1 https://wordpress.org/?v=5.8.1 https://wp.unil.ch/genomeeee/2016/12/08/exac-presents-a-catalogue-of-human-protein-coding-genetic-variation/#comment-302146 Tue, 12 Nov 2019 19:20:39 +0000 http://wp.unil.ch/genomeeee/?p=720#comment-302146 Separately, Walsh and colleagues from Imperial College London and the University of Oxford, U.K., have demonstrated the utility of the amassed genetic information for evaluating genes involved in multigenic heritable diseases. The team compared ExAC data to 7,855 clinical cardiomyopathy cases, finding that many putative cardiomyopathy-linked genes are unlikely to contribute to the disease. By focusing on confirmed genes, we expect this study to improve the clinical genetic testing of cardiomyopathies by reducing the number of uncertain and even false positive results, wrote Walsh. The team s results appeared in ]]>