no code implementations • 16 Apr 2024 • Benjamin J. Livesey, Mihaly Badonyi, Mafalda Dias, Jonathan Frazer, Sushant Kumar, Kresten Lindorff-Larsen, David M. McCandlish, Rose Orenbuch, Courtney A. Shearer, Lara Muffley, Julia Foreman, Andrew M. Glazer, Ben Lehner, Debora S. Marks, Frederick P. Roth, Alan F. Rubin, Lea M. Starita, Joseph A. Marsh
Computational methods for assessing the likely impacts of mutations, known as variant effect predictors (VEPs), are widely used in the assessment and interpretation of human genetic variation, as well as in other applications like protein engineering.
no code implementations • 18 Jan 2023 • Monica H. Wojcik, Chloe M. Reuter, Shruti Marwaha, Medhat Mahmoud, Michael H. Duyzend, Hayk Barseghyan, Bo Yuan, Philip M. Boone, Emily E. Groopman, Emmanuèle C. Délot, Deepti Jain, Alba Sanchis-Juan, Genomics Research to Elucidate the Genetics of Rare Diseases, Consortium, Lea M. Starita, Michael Talkowski, Stephen B. Montgomery, Michael J. Bamshad, Jessica X. Chong, Matthew T. Wheeler, Seth I. Berger, Anne O'Donnell-Luria, Fritz J. Sedlazeck, Danny E. Miller
Despite advances in clinical genetic testing, including the introduction of exome sequencing (ES), more than 50% of individuals with a suspected Mendelian condition lack a precise molecular diagnosis.