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

View ORCID ProfileR. Preste, O. Vitale, View ORCID ProfileR. Clima, View ORCID ProfileM. Attimonelli
doi: https://doi.org/10.1101/355461
R. Preste
1Department of Biosciences, Biotechnology and Biopharmaceutics, University of Bari, Bari 70126, Italy
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O. Vitale
1Department of Biosciences, Biotechnology and Biopharmaceutics, University of Bari, Bari 70126, Italy
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R. Clima
2Department of Medical and Surgical Sciences – DIMEC, Medical Genetics Unit, University of Bologna, Bologna 40126, Italy
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M. Attimonelli
1Department of Biosciences, Biotechnology and Biopharmaceutics, University of Bari, Bari 70126, Italy
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Abstract

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 https://www.hmtvar.uniba.it 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.

Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC-ND 4.0 International license.
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Posted June 25, 2018.
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HmtVar: a brand-new resource for human mitochondrial variations and pathogenicity data
R. Preste, O. Vitale, R. Clima, M. Attimonelli
bioRxiv 355461; doi: https://doi.org/10.1101/355461
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HmtVar: a brand-new resource for human mitochondrial variations and pathogenicity data
R. Preste, O. Vitale, R. Clima, M. Attimonelli
bioRxiv 355461; doi: https://doi.org/10.1101/355461

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