Mission

MetaDome's mission is to advance the interpretation of human genetic variation by leveraging homologous protein domain relationships. By aggregating data across protein domains, MetaDome amplifies the informational value of a single variant, providing robust evidence for its potential functional and clinical impact across evolutionary equivalent positions across the human proteome. Designed for medical and research professionals in human genetics, our platform allows users to visualize variants of interest against the backdrop of population-level variation. Ultimately, MetaDome aims to deliver actionable insights that directly empower scientific publications, variant interpretation, and the intelligent design of downstream experiments.

Who are we

MetaDome 2.0 was developed at Stanford University's School of Medicine, in collaboration with the Department of Human Genetics at Radboud University Medical Center (the Netherlands). The original MetaDome 1.0 was established at Radboudumc by the Department of Human Genetics and the Centre for Molecular and Biomolecular Informatics (CMBI).

Academic Impact

Citing MetaDome

If you use MetaDome in your research, please cite:

MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains
Human Mutation. 2019; 1-9. 10.1002/humu.23798

Notable Achievements

Related Publications

  • L. Wiel, J.E. Hampstead, et al. de novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders. The American Journal of Human Genetics, January 2023
  • J. Kaplanis, K.E. Samocha, L. Wiel, Z. Zhang, et al. Evidence for 28 genetic disorders discovered by combining healthcare and research data. Nature, October 2020
  • L. Wiel, et al. Aggregation of population-based genetic variation over protein domain homologues and its potential use in genetic diagnostics. Human Mutation, November 2017

Access & Open Source

Local Deployment & Database Access

Our open-source repository contains all necessary components to deploy a local instance of the MetaDome server. If you choose to do so, we kindly request that you include a link back to the official MetaDome web server. To accelerate your local setup, you can request access to our fully pre-compiled PostgreSQL database by contacting us.

Licensing

The source code is licensed under the MIT License. The website content is licensed under CC BY-NC-SA 4.0.

Privacy & Analytics

MetaDome uses Google Analytics to analyse aggregate traffic and usage trends with the sole purpose to maintain and improve MetaDome and to report aggregate usage statistics to scientific grant and publication agencies. Furthermore, Google reCAPTCHA protects this site from malicious entities, Google’s Privacy Policy and Terms of Service apply.

MetaDome will only track data using Google Analytics after you provide explicit consent via our cookie banner. You can always update your consent here. You can accept or decline analytics cookies through the cookie notice shown on the site. If you decline, analytics tracking is disabled, and the core functionality of MetaDome remains available. All traffic and usage data we collect is pseudonymized and retained for a maximum of 14 months. For complete details on how we handle data and cookies, please review our full Privacy Policy.

MetaDome is an academic resource: we do not sell personal data, do not monetize usage data, do not use it for advertising, and do not attempt to identify individual users from analytics information.

MetaDome performs its core visualizations client-side in your local browser, and we do not have access to how you interact with these visualizations.

Acknowledgments

MetaDome is built on top of amazing open-source projects and resources made freely available. We would like to express our deepest gratitude to:

UniProt GENCODE Pfam gnomAD ClinVar InterPro HMMER Flask PostgreSQL Redis Celery RabbitMQ Docker Bulma D3