Application of Full Genome Analysis to Diagnose Rare Monogenic Disorders
Joseph T.C. Shieh, Monica Penon‐Portmann, Karen H. Y. Wong, Michal Levy‐Sakin, Michelle Verghese, Anne Michele Slavotinek, Renata C. Gallagher, Bryce A. Mendelsohn, Jessica Tenney, Daniah T. Beleford, Hazel Perry, Stephen K. Chow, Andrew G. Sharo, Steven E. Brenner, Zhongxia Qi, , Dario Boffelli
This study evaluates the Full Genome Analysis method for diagnosing rare monogenic disorders, finding a 40% diagnostic yield in clinical cases.
npj Genomic Medicine · Sep 23, 2021Peer-reviewedGenetic & Genomic Medicine