Reliably Detecting Clinically Important Variants Requires Both Combined Variant Calls and Optimized Filtering Strategies
Author:
Publisher
Public Library of Science (PLoS)
Subject
Multidisciplinary
Reference53 articles.
1. Ten years of next-generation sequencing technology. Trends in genetics;EL van Dijk;TIG,2014
2. A survey of tools for variant analysis of next-generation genome sequencing data;S Pabinger;Briefings in bioinformatics,2014
3. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge;CA Brownstein;Genome biology,2014
4. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data;A McKenna;Genome research,2010
5. Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences;J Goecks;Genome biology,2010
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