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Related Experiment Video

Updated: May 25, 2026

A Fast and Quantitative Method for Post-translational Modification and Variant Enabled Mapping of Peptides to Genomes

A Fast and Quantitative Method for Post-translational Modification and Variant Enabled Mapping of Peptides to Genomes

Published on: May 22, 2018

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

Vladimir Makarov¹, Tina O'Grady, Guiqing Cai

¹The Seaver Autism Center for Research and Treatment, Department of Psychiatry, Levy Library, Mount Sinai School of Medicine, New York, NY 10029, USA. vladimir.makarov@mssm.edu

Bioinformatics (Oxford, England)

|January 20, 2012

Summary

AnnTools is a bioinformatics tool for annotating human genome variations like SNPs and INDELs. It integrates data from multiple sources for comprehensive analysis, suitable for high-throughput sequencing.

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Area of Science:

Bioinformatics
Genomics

Background:

AnnTools is a bioinformatics application for human genome variation annotation.
It processes single-nucleotide substitutions (SNP/SNV), insertions/deletions (INDEL), and structural variants (SV/CNV).

Purpose of the Study:

To provide a comprehensive annotation of human genome variations.
To integrate data from multiple sources for variant interpretation.
To offer functional characterization and identify overlaps with regulatory elements and disease loci.

Main Methods:

Utilizes 15 constantly updated data sources for variant interpretation.
Performs functional characterization of coding variants.
Searches for overlaps with regulatory elements, disease loci, segmental duplications, and artifact regions.
Accepts user-provided tracks for custom annotation.
Outputs results in Variant Call Format (VCF).

Main Results:

AnnTools provides detailed functional annotation for various human genome variations.
It integrates diverse data sources for a comprehensive analysis.
The tool is efficient with high annotation speed and low resource requirements.

Conclusions:

AnnTools offers a versatile and comprehensive solution for human genome variation annotation.
Its speed and low resource footprint make it suitable for high-throughput facilities and personal computers.
The application is freely available with installation scripts and helper tools.