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October 2, 2013New England Journal of Medicine2,011 citationsOpen Access

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

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YYYaping YangDMDonna M. MuznyJRJeffrey G. Reid

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Abstract

Whole-exome sequencing identified the underlying genetic defect in 25% of consecutive patients referred for evaluation of a possible genetic condition. (Funded by the National Human Genome Research Institute.).

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Yang et al. (2013) studied this question.

synapsesocial.com/papers/69db868f78a3e0e28868530chttps://doi.org/10.1056/nejmoa1306555
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