Article
A survey of tools for variant analysis of next-generation genome sequencing data.
Briefings in bioinformatics - 1 Mar 2014
Pabinger Stephan, Dander Andreas, Fischer Maria, Snajder Rene, Sperk Michael, Efremova Mirjana, Krabichler Birgit, Speicher Michael R, Zschocke Johannes, Trajanoski Zlatko
Abstract excerpt
Recent advances in genome sequencing technologies provide unprecedented opportunities to characterize individual genomic landscapes and identify mutations relevant for diagnosis and therapy. Specifically, whole-exome sequencing using next-generation sequencing (NGS) technologies is gaining popularity in the human genetics community due to the moderate costs, manageable data amounts and straightforward...
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