Zobrazeno 1 - 2
of 2
pro vyhledávání: '"David J. Salvador"'
Autor:
Hsiao-Mei Lu, Jefferey Chen, Deepali N. Shinde, David J. Salvador, Kelly D. Farwell, Soren Fischbach, Sha Tang
Publikováno v:
Journal of Genetics and Genome Research. 2
Whole exome sequencing (WES) has been remarkably successful as both a diagnostic and novel gene discovery tool since its introduction to the clinical laboratory in 2011. Where traditional diagnostic methods have been uninformative in discovering the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cc169b21a89f47835a4cf7f052549e76
https://doi.org/10.23937/2378-3648/1410018
https://doi.org/10.23937/2378-3648/1410018
Autor:
Zöe Powis, Charles Dunlop, Sha Tang, Hong Lu, Elizabeth C. Chao, Xiang Li, Hsiao-Mei Lu, David Ruble, Aaron Elliott, Dima El-Khechen, Monica Lao, Cameron Mroske, Kelly D. Farwell, Melissa C. Parra, Stephanie K. Gandomi, Jennifer Wen, Brigette Tippin Davis, Soren Fischbach, Ruth M. Baxter, Ira Lu, David J. Salvador, Layla Shahmirzadi, Shela Lee, Wenqi Zeng
Publikováno v:
Europe PubMed Central
Diagnostic exome sequencing was immediately successful in diagnosing patients in whom traditional technologies were uninformative. Herein, we provide the results from the first 500 probands referred to a clinical laboratory for diagnostic exome seque
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd8d430205e23f2f7db3723703b76cf4
http://europepmc.org/abstract/med/25356970
http://europepmc.org/abstract/med/25356970
