CFTR Pilot Study

The Cystic Fibrosis gene specific database (LSDB) http://www.cftwinsibstudy.org/ is currently independently being reconstructed for increased clinical and research utility. This activity which was spoken of at the HVP Planning Meeting 2008 aims to collect mutations from all countries and thus act as a model for non cancerous diseases.
Contact: G. Cutting ( This e-mail address is being protected from spambots. You need JavaScript enabled to view it ) Baltimore, U.S.A.

Reference Sequence system

Independent but collaborating work of NCBI and the GEN2PHEN consortium aims to ensure stable reference sequences (LRGs) for LSDBs to base their nomenclature on.
Contact: D. Maglott ( This e-mail address is being protected from spambots. You need JavaScript enabled to view it ) Baltimore, U.S.A.

Genome Commons

http://genomecommons.org/
Contact: Steven Brenner ( This e-mail address is being protected from spambots. You need JavaScript enabled to view it ) Berkeley, U.S.A.

GEN2PHEN

http://www.gen2phen.org
Contact: Anthony Brookes ( This e-mail address is being protected from spambots. You need JavaScript enabled to view it ) Leicester, U.K.

Catalogue of Somatic Mutation in Cancer (COSMIC)

http://www.sanger.ac.uk/genetics/CGP/cosmic/
Contact: Magali Olivier ( This e-mail address is being protected from spambots. You need JavaScript enabled to view it ) Lyon, France.

MAWSON Project

The MAWSON project www.mawsonproject.com is a project to collect all genetic variants found by participating diagnostic laboratories in Australia, and to store this information along with the laboratory's assessment of clinical significance. At this stage, the project is restricted to collecting variants identified during testing of the BRCA1 and BRCA2 genes. The main goals of the project are to increase quality of clinical interpretation of variants, support collaboration between the laboratories to achieve more reliable assessment of pathogenity, and to improve the consistency, efficiency, and quality of test reporting. The MAWSON project collaborates with the Australian node of the Human Variome Project (HVP) to avoid duplication of effort in data collection (uploading data on MAWSON and onto HVP; cleansing the raw data etc.). The project is funded by the Commonwealth Department of Health and Aging Quality Use of Pathology Program.

Contact: Jan Stanek ( This e-mail address is being protected from spambots. You need JavaScript enabled to view it ) Adelaide, Australia