Coverage and diagnostic yield of Whole Exome Sequencing for the Evaluation of Cases with Dilated and Hypertrophic Cardiomyopathy

Targeted next generation sequencing of gene panels has become a popular tool for the genetic diagnosis of hypertrophic (HCM) and dilated cardiomyopathy (DCM). However, it is uncertain whether the use of Whole Exome Sequencing (WES) represents a more effective approach for diagnosis of cases with HCM...

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Vydáno v:Sci Rep
Hlavní autoři: Mak, Timothy Shin Heng, Lee, Yee-Ki, Tang, Clara S., Hai, JoJo S. H., Ran, Xinru, Sham, Pak-Chung, Tse, Hung-Fat
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group UK 2018
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6052112/
https://ncbi.nlm.nih.gov/pubmed/30022097
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-29263-3
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