A survey of tools for variant analysis of next-generation genome sequencing data

@inproceedings{Pabinger2014ASO,
  title={A survey of tools for variant analysis of next-generation genome sequencing data},
  author={Stephan Pabinger and Andreas Dander and Maria Fischer and Ren{\'e} Snajder and Michael Sperk and Mirjana Efremova and Birgit Krabichler and Michael R. Speicher and Johannes Zschocke and Zlatko Trajanoski},
  booktitle={Briefings in Bioinformatics},
  year={2014}
}
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 interpretation of analysis results. While whole-exome and, in the near future, whole-genome… CONTINUE READING
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