Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

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Authors

Hane Lee · University of California, Los Angeles

Joshua L. Deignan · University of California, Los Angeles

Naghmeh Dorrani · University of California, Los Angeles

Samuel P. Strom · University of California, Los Angeles

Sibel Kantarci · University of California, Los Angeles

Fabiola Quintero‐Rivera · University of California, Los Angeles

Kingshuk Das

Abstract

In this sample of patients with undiagnosed, suspected genetic conditions, trio-CES was associated with higher molecular diagnostic yield than proband-CES or traditional molecular diagnostic methods. Additional studies designed to validate these findings and to explore the effect of this approach on clinical and economic outcomes are warranted.

Topics & Keywords

Genomics and Rare Diseases Genomic variations and chromosomal abnormalities Genetic factors in colorectal cancer

Publication Details

Published in: JAMA

Volume 312, Issue 18, pp. 1880-1880

DOI: 10.1001/jama.2014.14604

Field-Weighted Citation Impact: 73.27

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Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

Authors

Abstract

Topics & Keywords

Publication Details