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Integrated annotation and analysis of genetic variants from next-generation sequencing studies with variant tools

by: F. Anthony San Lucas, Gao Wang, Paul Scheet, Bo Peng
Bioinformatics, Vol. 28, No. 3. (01 February 2012), pp. 421-422, doi:10.1093/bioinformatics/btr667  Key: citeulike:10094004

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Abstract

Motivation: Storing, annotating and analyzing variants from next-generation sequencing projects can be difficult due to the availability of a wide array of data formats, tools and annotation sources, as well as the sheer size of the data files. Useful tools, including the GATK, ANNOVAR and BEDTools can be integrated into custom pipelines for annotating and analyzing sequence variants. However, building flexible pipelines that support the tracking of variants alongside their samples, while enabling updated annotation and reanalyses, is not a simple task.


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