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October 18, 2014JAMA978 citationsOpen Access

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

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HLHane LeeJDJoshua L. DeignanNDNaghmeh Dorrani

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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.

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Lee et al. (2014) studied this question.

synapsesocial.com/papers/69db868f78a3e0e28868530bhttps://doi.org/10.1001/jama.2014.14604
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