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

• Asıl Yazarlar: Wooderchak-Donahue Whitney L (Yazar), O'Fallon Brendan (Yazar), Furtado Larissa V (Yazar), Durtschi Jacob D (Yazar), Plant Parker (Yazar), Ridge Perry G (Yazar), Rope Alan F (Yazar), Yetman Angela T (Yazar), Bayrak-Toydemir Pinar (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2012-11-01T00:00:00Z.
• Konular: article
• Online Erişim: 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...