Article
Lessons learned from additional research analyses of unsolved clinical exome cases.
Genome medicine - 21 Mar 2017
Eldomery Mohammad K, Coban-Akdemir Zeynep, Harel Tamar, Rosenfeld Jill A, Gambin Tomasz, Stray-Pedersen Asbjørg, Küry Sébastien, Mercier Sandra, Lessel Davor, Denecke Jonas, Wiszniewski Wojciech, Penney Samantha, Liu Pengfei, Bi Weimin, Lalani Seema R, Schaaf Christian P, Wangler Michael F, Bacino Carlos A, Lewis Richard Alan, Potocki Lorraine, Graham Brett H, Belmont John W, Scaglia Fernando, Orange Jordan S, Jhangiani Shalini N, Chiang Theodore, Doddapaneni Harsha, Hu Jianhong, Muzny Donna M, Xia Fan, Beaudet Arthur L, Boerwinkle Eric, Eng Christine M, Plon Sharon E, Sutton V Reid, Gibbs Richard A, Posey Jennifer E, Yang Yaping, Lupski James R
Abstract excerpt
BACKGROUND: Given the rarity of most single-gene Mendelian disorders, concerted efforts of data exchange between clinical and scientific communities are critical to optimize molecular diagnosis and novel disease gene discovery. METHODS: We designed and implemented protocols for the study of cases for which a plausible molecular diagnosis was not achieved in a clinical genomics diagnostic laboratory (i.e. unsolved...
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