Article
Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
American journal of human genetics - 3 Aug 2023
Wojcik Monica H, Reuter Chloe M, Marwaha Shruti, Mahmoud Medhat, Duyzend Michael H, Barseghyan Hayk, Yuan Bo, Boone Philip M, Groopman Emily E, Délot Emmanuèle C, Jain Deepti, Sanchis-Juan Alba, Starita Lea M, Talkowski Michael, Montgomery Stephen B, Bamshad Michael J, Chong Jessica X, Wheeler Matthew T, Berger Seth I, O'Donnell-Luria Anne, Sedlazeck Fritz J, Miller Danny E
Abstract excerpt
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. Clinical evaluation is increasingly undertaken by specialists outside of clinical genetics, often occurring in a tiered fashion and typically ending after ES. The current diagnostic rate reflects multiple factors,...
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