Article

CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinic

2015-03-20

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> 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...

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Literature Corpus work: 79544a45-5e20-5305-a1ac-26e00b84f210
DOI: 10.1101/016808

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