Article
Impact of integrated translational research on clinical exome sequencing.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2021
Klee Eric W, Cousin Margot A, Pinto E Vairo Filippo, Morales-Rosado Joel A, Macke Erica L, Jenkinson W Garrett, Ferrer Alejandro, Schultz-Rogers Laura E, Olson Rory J, Oliver Gavin R, Sigafoos Ashley N, Schwab Tanya L, Zimmermann Michael T, Urrutia Raul A, Kaiwar Charu, Gupta Aditi, Blackburn Patrick R, Boczek Nicole J, Prochnow Carri A, Lowy Rebecca J, Mulvihill Lindsay A, McAllister Tammy M, Aoudia Stacy L, Kruisselbrink Teresa M, Gunderson Lauren B, Kemppainen Jennifer L, Fisher Laura J, Tarnowski Jessica M, Hager Megan M, Kroc Sarah A, Bertsch Nicole L, Agre Katherine E, Jackson Jessica L, Macklin-Mantia Sarah K, Murphree Marine I, Rust Laura M, Summer Bolster Jolene M, Beck Scott A, Atwal Paldeep S, Ellingson Marissa S, Barnett Sarah S, Rasmussen Kristen J, Lahner Carrie A, Niu Zhiyv, Hasadsri Linda, Ferber Matthew J, Marcou Cherisse A, Clark Karl J, Pichurin Pavel N, Deyle David R, Morava-Kozicz Eva, Gavrilova Ralitza H, Dhamija Radhika, Wierenga Klaas J, Lanpher Brendan C, Babovic-Vuksanovic Dusica, Farrugia Gianrico, Schimmenti Lisa A, Stewart A Keith, Lazaridis Konstantinos N
Abstract excerpt
PURPOSE: Exome sequencing often identifies pathogenic genetic variants in patients with undiagnosed diseases. Nevertheless, frequent findings of variants of uncertain significance necessitate additional efforts to establish causality before reaching a conclusive diagnosis. To provide comprehensive genomic testing to patients with undiagnosed disease, we established an Individualized Medicine Clinic, which offered...
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