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AnnTools

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 data formats. The output is generated in the universal variant call format (VCF).

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AnnTools versioning

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AnnTools classification

  • Animals
    • Homo sapiens

AnnTools specifications

Software type:
Package/Module
Restrictions to use:
None
Output format:
VCF
License:
BSD 2-clause “Simplified” License
Stability:
Stable
Interface:
Command line interface
Output data:
Variant calls
Operating system:
Unix/Linux, Mac OS, Windows
Computer skills:
Advanced
Maintained:
Yes

AnnTools support

Maintainer

  • Vladimir Makarov <>

Credits

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Publications

Institution(s)

The Seaver Autism Center for Research and Treatment, Department of Psychiatry, Mount Sinai School of Medicine, New York, NY, USA

Funding source(s)

Seaver Foundation; Simons Foundation; NIMH (grants MH089025 and MH093725)

Link to literature

By using OMICtools you acknowledge that you have read and accepted the terms of the end user license agreement.