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

• Main Authors: Wooderchak-Donahue Whitney L (Author), O'Fallon Brendan (Author), Furtado Larissa V (Author), Durtschi Jacob D (Author), Plant Parker (Author), Ridge Perry G (Author), Rope Alan F (Author), Yetman Angela T (Author), Bayrak-Toydemir Pinar (Author)
• Format: Book
• Published: BMC, 2012-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<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...