Human mitochondrial variant annotation with HmtNote

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).