Browsing by author "Poyastro-Pearson, Emma"
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CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting.
Münz, M; Ruark, E; Renwick, A; Ramsay, E; Clarke, M; et al. (BMC, 2015-07-28)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 ...