Open AccessClinical application of whole-exome sequencing across clinical indications
Author(s) -
Kyle Retterer,
Jane Juusola,
Megan T. Cho,
Patrik Vitazka,
Francisca Millan,
Federica Gibellini,
Annette Vertino-Bell,
Nizar Smaoui,
Julie Neidich,
Kristin G. Monaghan,
Dianalee McKnight,
Renkui Bai,
Sharon F. Suchy,
Bethany Friedman,
Jackie Tahiliani,
Daniel PinedaAlvarez,
Gabriele Richard,
Tracy Brandt,
Eden Haverfield,
Wendy K. Chung,
Sherri J. Bale
Publication year - 2015
Publication title -
genetics in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.509
H-Index - 128
eISSN - 1530-0366
pISSN - 1098-3600
DOI - 10.1038/gim.2015.148
Subject(s) - proband , exome sequencing , medicine , medical genetics , genetic testing , exome , genetics , bioinformatics , pediatrics , phenotype , gene , biology , mutation
We report the diagnostic yield of whole-exome sequencing (WES) in 3,040 consecutive cases at a single clinical laboratory.
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