Mission

MetaDome is developed at the department of Human Genetics and the Centre for Molecular and Biomolecular Informatics CMBI at the Radboud University Medical Centre in Nijmegen.

Human Genetics Nijmegen CMBI Radboudumc

Our mission is to provide better insight into human genetic variation in the context of the protein. By using homologous domain relations to further enhance the amount of information even a single genetic variant may provide. And to provide further evidence for the functional impact of genetic variants. MetaDome is aimed at professionals in the (bio-)medical field of human genetics who wish to visualize their mutation of interest in the context of normal genetic variation and provide detailed information of similar variants found across homologous domain positions. We hope that these new insights can be used directly in a publication and/or for intelligent design of further experiments.

Tutorial

To get more familiar with the using MetaDome and all of it's functionality we strongly advise to start the tour. If you feel that any questions are not addressed in the FAQ below, please contact us.

Method

MetaDome integrates publicly available data of human genetic variation to construct detailed information for a single protein and its protein domains. More information on this complex integration process can be found on the method page.

Citing MetaDome

Please cite the MetaDome web server article :

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

Informal Notice

Please express your gratitude for this free material by citing the above article.

The material provided is complete, correct to the best of our knowledge, and holds all that is needed to start building your own MetaDome server. If you do so, please provide a link to the MetaDome server. If you want to get a flying start by getting access to the fully built MetaDome database, feel free to contact us.

Licensing

The source code is licensed MIT. The website content is licensed CC ANS 4.0

Privacy

This section outlines the ways in which the MetaDome website handles information about users. This should not be read as a legal document, but as a description of how we handle information that could be considered sensitive.

Sensitive data

MetaDome does not save any data that a user may provide. The visualization of MetaDome occurs client-side (in your local browser) and is not accessible to us. This means we can not know which genes, transcripts, domains, and positions you are interested in.

Personalized tracking

MetaDome makes use of Google analytics (GA) to help us analyze how users navigate the various site-pages. GA uses a single-pixel "web bug" image, which is served from every page, a javascript script that collects information about each request, and cookies that maintain information about your usage of the site between visits. You can read more about how GA works on the GA website, which includes a detailed description of how traffic is tracked and analysed.

We use the information generated by GA purely to assess the usefulness and popularity of different features of the site. We have configured GA to not provide the ability to track individual users' usage of the site. However, GA does provides a high-level anonymized overview of the traffic that passes through the site, including such information as the approximate geographical location of users, how often and for how long they visited the site, etc.

We will never (and will not allow any third party to) use the information by the GA to track or to collect any Personally Identifiable Information of visitors to our site. Neither will we will link, or seek to link, an IP address with the identity of a computer user.

If you have any concerns about our use of Google analytics, please feel free to contact us.

Acknowledgments

This software could not exist without the many great open source projects and resources freely available to the (non-)scientific community. Particularly we would like to express our deepest thanks to the following projects that we have used for building the MetaDome web server:

Uniprot The GENCODE project produces high quality reference gene annotation and experimental validation for human and mouse genomes Pfam is a large collection of protein families, represented by multiple sequence alignments and hidden Markov models (HMMs) The Genome Aggregation Database (gnomAD) ClinVar is a freely accessible, public archive of reports of the relationships among human variations and phenotypes, with supporting evidence. InterPro: protein sequence analysis & classification HMMER: biosequence analysis using profile hidden Markov models Flask is a microframework for Python based on Werkzeug, Jinja 2 and good intentions. POSTGRESQL: THE WORLD'S MOST ADVANCED OPEN SOURCE RELATIONAL DATABASE Docker - Build, Ship, and Run Any App, Anywhere Bulma: a modern CSS framework based on Flexbox D3 is a JavaScript library for visualizing data with HTML, SVG, and CSS.