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

• Auteurs principaux: Wooderchak-Donahue Whitney L (Auteur), O'Fallon Brendan (Auteur), Furtado Larissa V (Auteur), Durtschi Jacob D (Auteur), Plant Parker (Auteur), Ridge Perry G (Auteur), Rope Alan F (Auteur), Yetman Angela T (Auteur), Bayrak-Toydemir Pinar (Auteur)
• Format: Livre
• Publié: BMC, 2012-11-01T00:00:00Z.
• Sujets: article
• Accès en ligne: 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...