TY - JOUR T1 - Human mitochondrial variant annotation with HmtNote JF - bioRxiv DO - 10.1101/600619 SP - 600619 AU - R. Preste AU - R. Clima AU - M. Attimonelli Y1 - 2019/01/01 UR - http://biorxiv.org/content/early/2019/04/10/600619.abstract N2 - HmtNote is a Python package to annotate human mitochondrial variants from VCF files.Variants 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.Annotations 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.HmtNote 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.HmtNote 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). ER -