Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
نویسندگان
چکیده
منابع مشابه
Molecular findings among patients referred for clinical whole-exome sequencing.
IMPORTANCE Clinical whole-exome sequencing is increasingly used for diagnostic evaluation of patients with suspected genetic disorders. OBJECTIVE To perform clinical whole-exome sequencing and report (1) the rate of molecular diagnosis among phenotypic groups, (2) the spectrum of genetic alterations contributing to disease, and (3) the prevalence of medically actionable incidental findings su...
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ژورنال
عنوان ژورنال: JAMA
سال: 2014
ISSN: 0098-7484
DOI: 10.1001/jama.2014.14601