InterVar

InterVar is a software tool to aid the clinical interpretation of sequence variants according to the 2015 American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) guidelines. A web-based version, winterVar, is available at http://wintervar.wglab.org.

Topic

Pharmacogenomics;Human genetics

Detail

Operation: Sequence comparison;Sequence database search
Software interface: Command-line user interface, web user interface
Language: Python
License: -
Cost: Free
Version name: v2021-08
Credit: National Institutes of Health (NIH).
Input: VCF
Output: -
Contact: Kai Wang kw2701@cumc.columbia.edu
Collection: -
Maturity: Stable

Publications

InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines.
Li Q, Wang K. InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines. Am J Hum Genet. 2017 Feb 2;100(2):267-280. doi: 10.1016/j.ajhg.2017.01.004. Epub 2017 Jan 26. PMID: 28132688; PMCID: PMC5294755.
https://doi.org/10.1016/j.ajhg.2017.01.004
PMID: 28132688
PMC: PMC5294755

Download and documentation

Source: https://github.com/ikalatskaya/ISOWN
Documentation: https://github.com/WGLab/InterVar/tree/master/docs
Home page: https://github.com/WGLab/InterVar
Links: http://wintervar.wglab.org/
Links: https://github.com/WGLab/InterVar/tree/master/example

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