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

ABSTRACT:

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 individuals. In this setting next generation sequencing (NGS) offers several advantages over traditional molecular techniques.

Methods

The purpose of our study was to compare NGS enrichment methods for a clinical assay targeting the nine genes known to be associated with aortopathy. RainDance emulsion PCR and SureSelect RNA-bait hybridization capture enrichment methods were directly compared by enriching DNA from eight samples. Enriched samples were barcoded, pooled, and sequenced on the I

SUBMITTER: Wooderchak-Donahue WL 

PROVIDER: S-EPMC3534588 | biostudies-literature | 2012 Nov

REPOSITORIES: biostudies-literature