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Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing by Yaping Yang; Donna M. Muzny; Fan Xia; Zhiyv Niu; Richard Person; Yan Ding; Patricia Ward; Alicia Braxton; Min Wang; Christian Buhay; Narayanan Veeraraghavan; Alicia Hawes; Theodore Chiang; Magalie Leduc; Joke Beuten; Jing Zhang; Weimin He; Jennifer Scull; Alecia Willis; Megan Landsverk; William J. Craigen; Mir Reza Bekheirnia; Asbjorg Stray-Pedersen; Pengfei Liu; Shu Wen; Wendy Alcaraz; Hong Cui; Magdalena Walkiewicz; Jeffrey Reid; Matthew Bainbridge; Ankita Patel; Eric Boerwinkle; Arthur L. Beaudet; James R. Lupski; Sharon E. Plon; Richard A. Gibbs; Christine M. Eng is a Medicine article available to read on EtoBox.

What is Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing about?

## 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 patients with clinical whole-exome sequencing analyzed between june 2012 and august 2014. whole-exome sequencing tests were performed at a clinical genetics laboratory in the united states. results were reported by clinical molecular geneticists certified by the american board of medical genetics and genomics. tests were ordered by the patient's physician. the patients were primarily pediatric (1756 [88%]; mean age, 6 years; 888 females [44%], 1101 males [55%], and 11 fetuses [1% gender unknown]), demonstrating diverse clinical manifestations most often including nervous system dysfunction such as developmental delay. ## Main outcomes and measures: Whole-exome sequenci

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Author

Yaping Yang; Donna M. Muzny; Fan Xia; Zhiyv Niu; Richard Person; Yan Ding; Patricia Ward; Alicia Braxton; Min Wang; Christian Buhay; Narayanan Veeraraghavan; Alicia Hawes; Theodore Chiang; Magalie Leduc; Joke Beuten; Jing Zhang; Weimin He; Jennifer Scull; Alecia Willis; Megan Landsverk; William J. Craigen; Mir Reza Bekheirnia; Asbjorg Stray-Pedersen; Pengfei Liu; Shu Wen; Wendy Alcaraz; Hong Cui; Magdalena Walkiewicz; Jeffrey Reid; Matthew Bainbridge; Ankita Patel; Eric Boerwinkle; Arthur L. Beaudet; James R. Lupski; Sharon E. Plon; Richard A. Gibbs; Christine M. Eng

Publisher

American Medical Association (AMA)

Published

2014

Language

EN

Field

Medicine (Health Sciences)