Open AccessClinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
Author(s) -
Hane Lee,
Joshua L. Deignan,
Naghmeh Dorrani,
Samuel P. Strom,
Sibel Kantarci,
Fabiola QuinteroRivera,
Kingshuk Das,
Traci L. Toy,
Bret Harry,
Michael Yourshaw,
Michelle Fox,
Brent L. Fogel,
Julián A. Martínez-Agosto,
Derek A. Wong,
Vivian Y. Chang,
Perry B. Shieh,
Christina G.S. Palmer,
Katrina M. Dipple,
Wayne W. Grody,
Éric Vilain,
Stanley F. Nelson
Publication year - 2014
Publication title -
jama
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.688
H-Index - 680
eISSN - 1538-3598
pISSN - 0098-7484
DOI - 10.1001/jama.2014.14604
Subject(s) - proband , medicine , exome sequencing , odds ratio , exome , genetic testing , compound heterozygosity , medical genetics , pediatrics , genetics , allele , mutation , biology , gene
Clinical exome sequencing (CES) is rapidly becoming a common molecular diagnostic test for individuals with rare genetic disorders.
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