Human mitochondrial variant annotation with HmtNote

Preste, R.; Clima, R.; Attimonelli, M.

doi:10.1101/600619

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bioRxiv · 10.1101/600619

Human mitochondrial variant annotation with HmtNote

Preste, R.·Clima, R.·Attimonelli, M.

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Abstract

HmtNote is a Python package to annotate human mitochondrial variants from VCF files.\n\nVariants are annotated using a wide range of information, which are grouped into basic, cross-reference, variability and prediction subsets so that users can either select specific annotations of interest or use them altogether.\n\nAnnotations are performed using data from HmtVar, a recently published database of human mitochondrial variations, which collects information from several online resources as well as offering in-house pathogenicity predictions.\n\nHmtNote also allows users to download a local annotation database, that can be used to annotate variants offline, without having to rely on an internet connection.\n\nHmtNote is a free and open source package, and can be downloaded and installed from PyPI (https://pypi.org/project/hmtnote) or GitHub (https://github.com/robertopreste/HmtNote).

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Preste, R., Clima, R., Attimonelli, M.. 2019-04-10. Human mitochondrial variant annotation with HmtNote. https://doi.org/10.1101/600619

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