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  • Brief Communication
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MobiDetails: online DNA variants interpretation

European Journal of Human Genetics volume 29, pages 356–360 (2021)Cite this article

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A Correction to this article was published on 10 December 2020

This article has been updated

Abstract

MobiDetails is an expert tool, online application which gathers useful data for the interpretation of DNA variants in the context of molecular diagnosis. It brings together in a single tool many sources of data, such as population genetics, various kinds of predictors, Human Genome Variation Society (HGVS) nomenclatures, curated databases, and access to various annotations. Accurate interpretation of DNA variants is crucial and can impact the patient care or have familial outcomes (prenatal diagnosis). Its importance will increase in the coming years with the expansion of the personalized medicine. MobiDetails is specifically designed to help with this task. Exonic or intronic substitutions and small insertions/deletions related to more than 18,000 human genes are easily submitted and annotated in real-time. It is a responsive website that can be accessed using mobiles or tablets during medical staff meetings. MobiDetails is based on publicly available resources, does not include any specific data on patients or phenotypes, and is freely available for academic use at https://mobidetails.iurc.montp.inserm.fr/MD/.

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Change history

  • 27 November 2020

    An amendment to this article has been published and can be accessed via a link at the top of the article.

  • 10 December 2020

    A Correction to this paper has been published: https://doi.org/10.1038/s41431-020-00789-3

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Acknowledgements

We thank early adopters of MobiDetails for their feedback and input, especially Drs. Vuthy Ea, Luke Mansard, Mouna Barat, Aurélien Perrin, Juliette Nectoux, and Alessandro Liquori. We thank Lawrence McGuire for the careful reading of the manuscript.

Funding

This work was supported in part by the French association “SOS Rétinite”.

Author information

Authors and Affiliations

  1. Laboratoire de Génétique Moléculaire, CHU de Montpellier, Université de Montpellier, Montpellier, F-34000, France

    David Baux, Charles Van Goethem, Anne Bergougnoux, Michel Koenig & Anne-Françoise Roux

  2. Plateau de Médecine Moléculaire et Génomique, CHU de Montpellier, Université de Montpellier, Montpellier, F-34000, France

    Olivier Ardouin

  3. Unité de Génétique Chromosomique, CHU de Montpellier, Université de Montpellier, Montpellier, F-34000, France

    Thomas Guignard

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  1. David Baux
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Correspondence to David Baux.

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Baux, D., Van Goethem, C., Ardouin, O. et al. MobiDetails: online DNA variants interpretation. Eur J Hum Genet 29, 356–360 (2021). https://doi.org/10.1038/s41431-020-00755-z

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