HmtVar: a brand-new resource for human mitochondrial variations and pathogenicity data release_ckon23ica5bcplnrcqugerpztq

by Roberto Preste, Ornella Vitale, Rosanna Clima, Marcella Attimonelli


Human mitochondrial data are currently of great interest for both clinicians and researchers, due to the involvement of mitochondria in a number of physiological and pathological processes. Thanks to new sequencing technologies and modern databases, the huge amount of information about mitochondrial genome variability can be exploited to gain interesting insights into the relationship between DNA variants, phenotypes and diseases. For this reason, we have developed the new HmtVar resource, a variant-focused database which allows to explore a dataset of over 30000 human mitochondrial variants together with their pathogenicity prediction. Mitochondrial variation data, initially gathered from the HmtDB platform, are further integrated with in-house pathogenicity assessments based on well-established variants pathogenicity evaluation criteria, as well as with a set of additional annotations from third-party resources. This approach led to a comprehensive collection of information of crucial importance for human mitochondrial variation studies and investigation of common and rare diseases in which the mitochondrion is involved to some extent. HmtVar is accessible at and its data can be retrieved using either a web interface through the Query page or a state-of-the-art API for programmatic access.
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Released as a post by Cold Spring Harbor Laboratory
Release Date 2018-06-25
Publisher Cold Spring Harbor Laboratory

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Date   2018-06-25
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As JSON object via API