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A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective
BACKGROUND: Aortopathies are a group of disorders characterized by aneurysms, dilation, and tortuosity of the aorta. Because of the phenotypic overlap and genetic heterogeneity of diseases featuring aortopathy, molecular testing is often required for timely and correct diagnosis of affected individu...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3534588/ https://www.ncbi.nlm.nih.gov/pubmed/23148498 http://dx.doi.org/10.1186/1755-8794-5-50 |