About Mutalyzer

Contact

The Mutalyzer mailing list is a general discussion list for Mutalyzer. Messages can be posted to this list via the Google Groups interface or by sending an email to mutalyzer@googlegroups.com.

Bugs and concrete feature requests may also be filed directly in the GitHub issue tracker.

If you are a regular user of the Mutalyzer webservices or are maintaining your own Mutalyzer installation, consider subscribing to the Mutalyzer Announcements mailing list. This is a low-volume mailing list for announcing updates to Mutalyzer and its infrastructure.

If you have a private question or a security related issue to discuss, please use the private address mutalyzer@humgen.nl.

Open Source

Mutalyzer is Open Source and available under the GNU Affero General Public License. Please contact the authors if you want to discuss custom licensing.

Contributions to Mutalyzer are very welcome! They can be feature requests, bug reports, bug fixes, unit tests, documentation updates, or anything else you may come up with.

Development of Mutalyzer happens on GitHub: github.com/mutalyzer/mutalyzer

If you're interested in running your own Mutalyzer installation, please have a look at our Mutalyzer Ansible role for a completely automated deployment.

Development

Mutalyzer 2.0.29 is designed and developed by Jeroen F.J. Laros, with the following exceptions:

  • The LRG parser, as well as the Batch interfaces are written by Gerben R. Stouten.
  • The position converter interfaces (web service and WWW) are written by Gerard C.P. Schaafsma.
  • Current development and maintenance is done by Martijn Vermaat.
  • Automatic extraction of variant descriptions is implemented by Jonathan Vis.

Furthermore we would like to thank the following people for their valuable work on previous versions that acted as a guideline for the development of the current version:

  • Ernest van Ophuizen.
  • Martin Wildeman.
  • Corinne Bareil.
  • Gerben R. Stouten.

Specifications are given by Peter E.M. Taschner and Johan T. den Dunnen.

Since references to WWW-sites are not yet acknowledged as citations, please mention "Wildeman M et al. (2008). Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker. Hum Mutat 29, 6-13" (direct link) when referring to these pages.

The Description Extractor is described separately in "Vis JK et al. (2015). An efficient algorithm for the extraction of HGVS variant descriptions from sequences. Bioinformatics, 2015 Dec 1;31(23):3751-7" (direct link).

We thank the following organisations for their contribution to the development of Mutalyzer.

Gen2Phen Netherlands Bioinformatics Centre EuroGentest Dutch national program COMMIT Landscape - Increasing Data Impact SUN Microsystems
HVP IRDiRC

Counters

We keep simple counters for the use of the various Mutalyzer services, broken down by interface.

Service Interface Total (all interfaces)
Website Webservice Batch job
Syntax checker 35,042 7,637,017 2,419,646 10,091,705
Name checker 6,659,091 34,093,494 67,777,016 108,529,601
Description extractor 11,384 28,117,801 N/A 28,129,185
Position converter 17,839,981 103,849,477 176,513,896 298,203,354
SNP converter 537,755 3,887,797 23,042,492 27,468,044
Batch jobs 31,733 226,016 N/A 257,749
Total (all services) 25,114,986 177,811,602 269,753,050 472,679,638