CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinic
Márton Münz, Elise Ruark, Anthony Renwick, Emma Ramsay, Matthew Clarke, Shazia Mahamdallie, Victoria Cloke, Sheila Seal, Ann Strydom, Gerton Lunter, Nazneen Rahman
This paper introduces CSN and CAVA, tools for standardized, rapid variant annotation of NGS data, showing high accuracy and clinical relevance in BRCA1/BRCA2 analysis.
bioRxiv · Mar 21, 2015Genomics