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

doi:10.1038/s41598-018-29263-3

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Article

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

Scientific reports - 18 Jul 2018

Mak Timothy Shin Heng, Lee Yee-Ki, Tang Clara S, Hai JoJo S H, Ran Xinru, Sham Pak-Chung, Tse Hung-Fat

Abstract excerpt

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 and DCM. In this study, we performed indirect comparisons of the coverage and diagnostic yield of WES on genes and...

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