We thank all the academic teams who provide freely available tools for the community.
You will find below a list of references and versions of all tools included in MobiDetails:
ClinVar watch functionality / favourite variants:
Authenticated users have the ability to mark any variant of interest. There are 2 types of marks in Mobidetails:
In addition you can choose to select the 'Automatic ClinVar watch of the variants you generate' feature. Enabling this feature will ensure that each time that you generate an annotation while being authenticated, this variant is automatically added to your watch list.
To empty your watch list, just disable the Clinvar watch feature in your profile page. In addition, enabling the 'Automatic ClinVar watch of the variants you generate' feature will also fill in your watch list with all the variants you already annotated.
This website and the associated API is maintained by the Laboratory of Molecular genetics, Montpellier University Hospital, France. It is provided as a free for academic use service on an 'as-is' basis, without any warranty for accuracy. In particular, classifications do not necessarily reflect the classification considered in the laboratory. It is distributed as a free software under the GNU General Public License.
Baux, D., Van Goethem, C., Ardouin, O. et al. MobiDetails: online DNA variants interpretation. Eur J Hum Genet (2020). DOI - PubMed
De Sainte Agathe, J-M., Filser, M. et al. SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation. Hum genomics (2023). DOI - PubMed
For any inquiries, please send us an .
Available at https://github.com/vidboda/MobiDetails
This service is based on VariantValidator (paper) to create the variants.
Logos made using Logomakr. Cookie Consents popup made with CookieConsent API.
MobiDetails uses several APIs to maintain its data integrity, including:
Data sharing using LOVD:
MobiDetails and LOVD are working together to ensure a persistent sharing of the variants and annotations.
When a MobiDetails user defines an ACMG class, this action triggers the submission of the variant to the Global Variome LOVD shared database. As in MobiDetails the variants are not related to any patient or sample, this will also be the case with the LOVD submissions. Only the HGVS nomenclatures, definition of the variant and the ACMG class will be sent. The MobiDetails user will not be listed as "Submitter" in the LOVD instance (The submitter will be identified as "MobiDetails"). This behaviour can be modified in the profile page of the MobiDetails user.
This integration of the 2 system will ensure a larger diffusion of the useful data present in MobiDetails.
Non academic users:
MobiDetails is free for use, but non-academic users must register and be identified as such.
Their access to data will be slightly modified in order to comply with different tools terms of distribution. However, if you plan to make an extensive use of MobiDetails, contact us in order to set up a proper plan for you.
MobiDetails does not require an account, you can annotate and analyse variants as a public user (except for non-academic users, see above).
Authentication allows a greater experience and involves cookies, however, they are strictly functional cookies.
By registering, you agree that MobiDetails will store some kind of personal data. These data will not be used for any commercial purpose neither be transmitted to any organism. Their usage is strictly restricted to MobiDetails internal operation.