2014
DOI: 10.1001/jama.2014.14601
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Abstract: 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 such as FBN1 mutations causing Marfan syndrome. DESIGN, SETTING, AND PATIENTS Observational study of 2000 consecutive … Show more

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Cited by 1,168 publications
(779 citation statements)
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“…The first of these was reported by the Baylor College of Medical Genetics Laboratory which demonstrated a 25% molecular diagnostic rate for 250 probands with varying indications (although 80% had a neurologic phenotype) 16. Interestingly, when they increased the number of patients to 2000, the diagnostic rate remained 25% 17. The Lee et al study of 814 patients who underwent WES in a clinical diagnostic laboratory reported a similar diagnostic rate of 22–31% 18.…”
Section: Impact Of Next‐generation Sequencing On Rare Disease Diagnosismentioning
confidence: 97%
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“…The first of these was reported by the Baylor College of Medical Genetics Laboratory which demonstrated a 25% molecular diagnostic rate for 250 probands with varying indications (although 80% had a neurologic phenotype) 16. Interestingly, when they increased the number of patients to 2000, the diagnostic rate remained 25% 17. The Lee et al study of 814 patients who underwent WES in a clinical diagnostic laboratory reported a similar diagnostic rate of 22–31% 18.…”
Section: Impact Of Next‐generation Sequencing On Rare Disease Diagnosismentioning
confidence: 97%
“…Over the past 2–3 years, several large studies have demonstrated the diagnostic utility of WES for a large number of patients analyzed in clinical diagnostic laboratories 16, 17, 18. The first of these was reported by the Baylor College of Medical Genetics Laboratory which demonstrated a 25% molecular diagnostic rate for 250 probands with varying indications (although 80% had a neurologic phenotype) 16.…”
Section: Impact Of Next‐generation Sequencing On Rare Disease Diagnosismentioning
confidence: 99%
See 3 more Smart Citations