MDI NEWS
MDI depository of mutations
CORRESPONDENCE
ANNOUNCING NEW DATABASES
PHILADELPHIA MEETING REPORT
CALENDAR OF EVENTS
WayStation Pilot
As discussed at the last meeting in Vancouver, BiSC (Toronto Bioinformatics Supercomputing Centre, the host for GDB) has produced a pilot version of the central variation depository "WayStation". This is discussed in further detail in the Philadelphia meeting report below. Briefly, the submission WayStation aims to create a central point to submit and disperse data to LSDBs and central databases in one place only and to provide a consistent interface and format for this data. The draft 4 of the allele variant entry form developed by the MDI in 1999 (http://ariel.ucs.unimelb.edu.au:80/~cotton/entry.htm) has been adopted and made into a streamlined web-based submission form. Redirection of submitted data to the appropriate curators for review because they can review it most properly would also be a function of this WayStation. A working model is now available for viewing and comment at: http://www.centralmutations.org/.
Industry Collaboration
As you know, MDI has been approaching various funding bodies, Government and Industry, to find funds to support our activities and build the central variation database. We have had an offer from Incyte Genomics. In summary Incyte is interested in working with MDI and others to utilize Incyte's Genomics Knowledge Platform, with associated biological object model, as a mechanism for the integration and assembly of the Database and (b) becoming the exclusive commercial on-line provider of the Database. Mirror databases on Academic sites will be allowed. The proposed database will be free to academics. Incyte expects that the MDI will control the management and implementation of data integration and curation. The Memorandum of Understanding (which has not yet been signed) is available by email from Rania (horaitis@ariel.ucs.unimelb.edu.au) by request.
Variation "Society" & Journal
It has been proposed that HUGO-MDI form a Society and that the journal "Human Mutation" become the official Society journal. There was unanimous agreement at the Philadelphia meeting for both these suggestions. Work is now taking place to change the Bylaws of another Society and take care of the details. It will be circulated shortly. You will be kept informed and ideas and comments are welcome.
None this issue
The following databases have recently been released:
1. AKUdatabase; Homogentisate 1,2 Dioxygenase Locus (HGO) Mutation and Polymorphism
Database Home Page (HGD-OMIM 203500)
http://www.cib.csic.es/~akudb/index.htm
Curators: Santiago Rodríguez de Córdoba & Daniel Beltrán-Valero de Bernabé, Centro de Investigaciones Biológicas (CSIC) Velázquez, Madrid, Spain
2. Go!Poly: A Gene Oriented Polymorphism Database
Curator: Zhang Ge and the Chinese Human Genome Consortium
The 9th International HUGO Mutation Database Meeting was held in association with the ASHG 2000 on the 3rd of October in Philadelphia, Pennsylvania U.S.A. Sixty-two registrants from ten countries were in attendance. The morning session was devoted to invited abstracts and the afternoon was set aside for discussion. The invited abstracts presented in the morning session concentrated on issues important to variation and databases. Diverse topics included accessing databases from mobile devices, variable expressivity in mutation databases, an Arab disease variation database, gene and allele nomenclature, HGBASE, GKP, MutationDiscovery.com and an ontology for assays to screen SNPs. This meeting sees a culmination of the efforts of the MDI of the last six years as a working pilot of the WayStation proposed at the Vancouver meeting is now complete and an option for self-sustainability through an industry collaboration has been put forth. Proposals for HUGO-MDI to form an official Society with Human Mutation as its official journal were also made and unanimously accepted. A detailed meeting report may be found on the HUGO-MDI Website: www.mrc.edu.au/mdi. If you would like this emailed to you please contact Rania (horaitis@ariel.ucs.unimelb.edu.au)
MDI Meeting
San Diego, California, U.S.A.
12th October 2001
This meeting will be held in association with the American Society of Human
Genetics Annual Meeting.
Please mark these dates in your diary.