AnnTools: a comprehensive and versatile annotation toolkit for genomic variants.

ABSTRACT:

Unlabelled

AnnTools is a versatile bioinformatics application designed for comprehensive annotation of a full spectrum of human genome variation: novel and known single-nucleotide substitutions (SNP/SNV), short insertions/deletions (INDEL) and structural variants/copy number variation (SV/CNV). The variants are interpreted by interrogating data compiled from 15 constantly updated sources. In addition to detailed functional characterization of the coding variants, AnnTools searches for overlaps with regulatory elements, disease/trait associated loci, known segmental duplications and artifact prone regions, thereby offering an integrated and comprehensive analysis of genomic data. The tool conveniently accepts user-provided tracks for custom annotation and offers flexibility in input

SUBMITTER: Makarov V 

PROVIDER: S-EPMC3289923 | biostudies-literature | 2012 Mar

REPOSITORIES: biostudies-literature