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.
