Article
CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting.
Genome medicine - 28 Jul 2015
Münz Márton, Ruark Elise, Renwick Anthony, Ramsay Emma, Clarke Matthew, Mahamdallie Shazia, Cloke Victoria, Seal Sheila, Strydom Ann, Lunter Gerton, Rahman Nazneen
Abstract excerpt
BACKGROUND: Next-generation sequencing (NGS) offers unprecedented opportunities to expand clinical genomics. It also presents challenges with respect to integration with data from other sequencing methods and historical data. Provision of consistent, clinically applicable variant annotation of NGS data has proved difficult, particularly of indels, an important variant class in clinical genomics. Annotation in...
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