A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective

A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective

<p>Abstract</p> <p>Background</p> <p>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 require...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: BMC 2012-11-01
Series:BMC Medical Genomics
Subjects:
Aortopathy
Hybridization capture
Marfan syndrome
Next generation sequencing (NGS)
Target enrichment
Emulsion PCR
Online Access:http://www.biomedcentral.com/1755-8794/5/50

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http://www.biomedcentral.com/1755-8794/5/50

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