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...

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Библиографические подробности
Главные авторы: Wooderchak-Donahue, Whitney L, O’Fallon, Brendan, Furtado, Larissa V, Durtschi, Jacob D, Plant, Parker, Ridge, Perry G, Rope, Alan F, Yetman, Angela T, Bayrak-Toydemir, Pinar
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2012
Предметы:
Research Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3534588/
https://ncbi.nlm.nih.gov/pubmed/23148498
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8794-5-50
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