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Article

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

Bioinformatics (Oxford, England) - 1 Mar 2012

Makarov Vladimir, O'Grady Tina, Cai Guiqing, Lihm Jayon, Buxbaum Joseph D, Yoon Seungtai

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22257670
DOI: 10.1093/bioinformatics/bts032
PMCID: PMC3289923

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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