The Human Variome Project – Pilot project and progress

Abstract

Cotton R.G.H. and Collaborators Convenor, Human Variome Project; Head, Genomic Disorders Research Centre, Howard Florey Institute; Department of Medicine, the University of Melbourne, Melbourne, Australia The Human Variome Project (Cotton et al 2007) ("www.humanvariomeproject.org":http://www.humanvariomeproject.org) was initiated in June 2006 (Ring H.Z. et al. 2006) drawing attention to the importance of collection of variation and its phenotype and to develop programs to put this into effect.The project builds on work and concepts of the HGVS and others over many years ("www.hgvs.org":http://www.hgvs.org) to focus on all variation associated with disease. The project will include those discovering mutations and their effects and then collecting the data making it instantly available for those who need it to inform clinical decisions, therapy, and research.A high level meeting in Spain (Kaput et al. 2009) developed plans to implement the recommendations of the HVP Melbourne meeting (Cotton et al. 2007). The HVP was featured recently in relation to Neurogenetic databases in Science (Cotton et al. 2008) and a HVP Neurogenetic Database Initiative is being formed after an HVP Neurogenetics forum in Hawaii October 2009. The Nutrigenomics community is establishing protocols in partnership with HVP. This activity culminated in the third HVP meeting hosted by and under the patronage of UNESCO in Paris ("www.humanvariomeproject.org":http://www.humanvariomeproject.org). A manuscript on the Paris meeting is in preparation (Maija Kohonen Corish et al).The HVP and InSiGHT (International Society for Gastrointestinal Hereditary Tumours) ("www.insight-group.org":http://www.insight-group.org) has developed a major pilot study to develop procedures and systems to allow effortless flow of de-identified data for the colon cancer genes from the patient/clinic/diagnostic laboratory via curated locus or gene specific databases to central databases/genome browsers such as NCBI, UCSC and EBI. The system will be easily adaptable to other genes and to multiple laboratories, states and countries worldwide.A country specific collection pilot is underway in Australia and an International Confederation of these countries has been initiated with Malaysia, Korea, China, Australia and Saudi Arabia in the application process.Other pilot studies developed include specific ethical studies related to mutation collection, loading of LSDB content to NCBI databases, funding of curation of LSDBs, a system of Microattribution/reward for mutation submission.