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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...
Autores principales: | Mak, Timothy Shin Heng, Lee, Yee-Ki, Tang, Clara S., Hai, JoJo S. H., Ran, Xinru, Sham, Pak-Chung, Tse, Hung-Fat |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6052112/ https://www.ncbi.nlm.nih.gov/pubmed/30022097 http://dx.doi.org/10.1038/s41598-018-29263-3 |
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