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Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease
BACKGROUND: Congenital heart disease (CHD) is the most common type of birth defect with family and population based studies supporting a strong genetic etiology for CHD. The goal of this study was to determine if a whole exome sequencing (WES) approach could identify pathogenic segregating variants...
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| Publicado no: | Circ Cardiovasc Genet |
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| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5412122/ https://ncbi.nlm.nih.gov/pubmed/27418595 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCGENETICS.115.001324 |
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