References Watch list Disclaimer Cite Contact E-posters Group Source code Credits Data Sharing Non academic access Privacy policy

What you will get with MobiDetails

How to use it

References

References:

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:

References and versions of all resources used in MD:
Resource Version Reference
AbSplice v1.0.0 (dataset) Wagner et al., 2023
AlphaMissense v20230803 (dataset) Cheng et al., 2023
CADD v1.6 Rentzsch et al., 2019
ClinGenSpecificationRegistry v20240227 No paper available yet
ClinPred 2018_hg19 Alirezaie et al., 2018
ClinVar v20240221 Landrum et al., 2016
dbMTS v1.0 Chang et al., 2020
dbNSFP v4.3a Liu et al., 2016
dbscSNV v1.1 Jian et al., 2014
dbSNP v156 Sherry et al., 2001
EpiSignature v20210901 Foroutan et al., 2021
Eigen v1.1 Ionita-Laza et al., 2016
FatHMM from dbNSFP Shihab et al., 2013
gnomAD v2.1.1;v3.1.2;v4.0.0 Karczewski et al., 2020
HexoSplice Live web site Tubeuf et al., 2020
InterVar API Li et al., 2017
LitVar2 API Allot et al., 2018
LOVD API Fokkema et al., 2011
MaxEntScan 2004 Yeo et al., 2004
MetaDome v1.0.1 Wiel et al., 2019
MetaSVM-LR from dbNSFP Dong et al., 2015
Mistic v1 Chennen, Weber et al., 2020
MIZTLI Live web site No paper available yet
MorfeeDB 1.0 No paper available yet
MPA 1.1 Yauy et al., 2018
MuPIT API Niknafs et al., 2013
Mutalyzer API Wildeman et al., 2008
mygene.info API Xin et al., 2016
OncoKBGenes v20221213 Chakravarty et al., 2017
panelApp API Stark et al., 2021
Polyphen-2 from dbNSFP Adzhubei et al., 2010
regulomeDB Live web site Boyle et al., 2012
REVEL 1.3 Ioannidis et al., 2016
SIFT from dbNSFP Ng et al., 2003
SPiP v2.1 Leman et al., 2022
spliceAI v1.3 Jaganathan et al., 2019
spliceAIlookup API No paper available yet
SpliceAI-visual internal implementation De Sainte Agathe et al., 2022
togows API Katayama et al., 2010
VariantValidator API Freeman et al., 2018

ClinVar watch functionality / favourite variants:

Authenticated users have the ability to mark any variant of interest. There are 2 types of marks in Mobidetails:

  • Favourite variants: identified by a star icon . this list is useful to:
  • ClinVar watch variants: identified by a heart icon . This list of variants will be checked against each new release of ClinVar, and significant changes will be reported by email to you. Significant changes means:
    • ACMG class 1 or 2 to any other class
    • class 3 to any other class
    • class 4 or 5 to any other class
    • Conflicting to any other or any to conflicting
    • variant occuring in ClinVar
    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.

Check the animated gif to learn how to modify the lists

Disclaimer:

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.

Cite:

  • To mention MobiDetails, please cite:
    Baux, D., Van Goethem, C., Ardouin, O. et al. MobiDetails: online DNA variants interpretation. Eur J Hum Genet (2020). DOI - PubMed
  • To specifically cite SpliceAI-visual, please include the above citation and:
    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

Contact:

X

For any inquiries, please send us an .

E-posters:

Group's websites:

Deafness and blindness group at Laboratory of molecular genetics, Montpellier University Hospital

MoBiDiC, bioinformaticians at Montpellier University Hospital

Source code:

Credits:

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:

And some others to provide you the most up to date data:

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.

Privacy policy:

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.