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 info@mutalyzer.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 2.0.32 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 42,975 8,536,938 2,782,843 11,362,756
Name checker 10,563,524 43,380,009 80,359,254 134,302,787
Description extractor 15,423 28,118,026 N/A 28,133,449
Position converter 28,505,213 112,234,023 196,109,333 336,848,569
SNP converter 548,385 3,946,983 29,559,472 34,054,840
Batch jobs 41,555 232,963 N/A 274,518
Total (all services) 39,717,075 196,448,942 308,810,902 544,976,919