Human Mutation was initiated to focus on gene mutation, specifically its discovery and documentation. Its contribution is indicated by the fact that it is currently 12th in the Genetics and Heredity category with a 6.845 impact factor. Its success is also indicated by the fact that Human Mutation is the top journal contributing mutations on an annual basis to the HGMD database [Stenson et al., 2003]. Also, our Mutation Update category of articles has initiated at least 80 locus specific databases available on the web (www.hgvs.org/dblist/glsdb.html).
The journal also serves as the official voice of the Human Genome Variation Society (HGVS; www.hgvs.org), which stemmed from the Human Genome Organisation (HUGO) Mutation Database Initiative. Members of this society have made considerable contributions to the collection of mutation; e.g., Nomenclature (see www.hgvs.org/mutnomen; Antonarakis the Nomenclature Working Group [1998]; and den Dunnen and Antonarakis [2000]); Locus Specific Database Software (Leiden Open Variation Database [LOVD]; www.dmd.nl/LOVD/1.1.0/; Fokkema et al. [2005]); Database Content [Claustres et al., 2002;Horaitis and Cotton, 2004;Scriver et al., 1999Scriver et al., , 2000]]; quality control of mutation information [Cotton and Horaitis, 2000]; and most recently, the mutation portal WayStation (www.centralmutations. org) for submission. However, despite the importance of complete and accurate ascertainment of mutation information in the delivery of genetics health care-2% of all births are affected by disease mutation and roughly 60% of all humans are affected in some way by mutation [Czeizel and Sankaranarayanan, 1984]funding bodies have been reluctant to finance a program to allow complete collection and availability of mutations with their respective phenotype information. This being the case, a new strategy is being initiated.
We believe that a new focus is required to lead this mutation collection activity, as well as the enormous field of SNP association studies. We propose that this activity be called Variomics [Cotton, 2002] and be referred to as the Human Variome Project, in the hope that major bodies involved at the level of international health will align with this initiative and lend their support to this important project. This support should improve the prospect of funding such a project.
If satisfactory funding can be obtained for the proper study of genotype-phenotype variation in single gene disorders it will improve the quality of genetic health care to tens or even hundreds of millions around the world and be an excellent foundation for the more difficult areas of common disease and pharmacogenomics.