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The usefulness of whole-exome sequencing in routine clinical practice.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2014

Iglesias Alejandro, Anyane-Yeboa Kwame, Wynn Julia, Wilson Ashley, Truitt Cho Megan, Guzman Edwin, Sisson Rebecca, Egan Claire, Chung Wendy K

Abstract excerpt

PURPOSE: Reports of the use of whole-exome sequencing in clinical practice are limited. We report our experience with whole-exome sequencing in 115 patients in a single center and evaluate its feasibility and clinical usefulness in clinical care. METHODS: Whole-exome sequencing was utilized based on the judgment of three clinical geneticists. We describe age, gender, ethnicity, consanguinity, indication for...

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Consanguinity
Developmental Disabilities
Exome
High-Throughput Nucleotide Sequencing
Infant, Newborn

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Reproducibility of Results

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PMID: 24901346
DOI: 10.1038/gim.2014.58

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