Article

Human mitochondrial variant annotation with HmtNote

2019-04-10

Abstract excerpt

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...

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Literature Corpus work: 0bea3669-a1a8-535b-a95c-6c12deef4ca6
DOI: 10.1101/600619

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