Article
Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2011
Berg Jonathan S, Evans James P, Leigh Margaret W, Omran Heymut, Bizon Chris, Mane Ketan, Knowles Michael R, Weck Karen E, Zariwala Maimoona A
Abstract excerpt
PURPOSE: Advances in genetic sequencing technology have the potential to enhance testing for genes associated with genetically heterogeneous clinical syndromes, such as primary ciliary dyskinesia. The objective of this study was to investigate the performance characteristics of exon-capture technology coupled with massively parallel sequencing for clinical diagnostic evaluation. METHODS: We performed a pilot...
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