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

F. Anthony San Lucas | Zendy; Gao Wang | Zendy; Paul Scheet | Zendy; Bo Peng | Zendy

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

Author(s) -

F. Anthony San Lucas,

Gao Wang,

Paul Scheet,

Bo Peng

Publication year - 2011

Publication title -

bioinformatics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.599

H-Index - 390

eISSN - 1367-4811

pISSN - 1367-4803

DOI - 10.1093/bioinformatics/btr667

Subject(s) - annotation , computer science , mit license , data mining , software , license , information retrieval , artificial intelligence , programming language , operating system

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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