Collection of variation causing disease - The Human Variome Project
- PDF / 97,092 Bytes
- 3 Pages / 609.449 x 790.866 pts Page_size
- 19 Downloads / 188 Views
Guest Editorial Collection of variation causing disease – The Human Variome Project
Collection of mutations (defined as variation causing disease in this paper) causing disease began soon after the cause of thalassaemia as a mutation in the b-globin gene was established.1 As other disease genes were defined, collection of individual mutations and their effects increased dramatically and it is still increasing today. The reason for this collection was/is for research, clinical guidance and diagnostic strategies in specific diseases. These collections have been made by expert and dedicated workers world- and disease-wide for their own purposes. Some collection has been occurring centrally, with mutations in all genes involved; for example, Online Mendelian Inheritance in Man (OMIM; http:// www.ncbi.nlm.nih.gov/omim/2), Human Gene Mutation Database (HGMD; http://www.hgmd.cf. ac.uk/3) and MutDB (http://mutdb.org/4). Collection of mutation data in individual genes into databases (locus-specific databases [LSDBs]) is difficult to fund and is rarely funded.5 Thus, the fact that so many exist6 indicates they are needed. These ‘curators’ consequently usually work in isolation in their spare time, using a variety of software packages, with data consequently being out of date, or, sometimes, LSDBs are removed from the internet. Other problems besides these are lack of incentives to submit data, lack of standard methods, lack of coordination, large amounts of data in clinics not available to those who need it and lack of secure repositories, among others. Attempts to raise the profile of this activity and its funding began in the mid-1990s with the formation of the HUGO-Mutation Database Initiative,7 which developed into the Human
Genome Variation Society (HGVS; http://www. hgvs.org/). This organisation developed standards and provided advice and some incentives, and generated more LSDBs. To raise the profile further, the concept of the Human Variome Project (HVP; http://www.humanvariomeproject.org/8) was developed. A meeting, co-sponsored by the World Health Organization and the American College of Medical Genetics (ACMG), was held in Melbourne, involving the United Nations Educational, Scientific and Cultural Organisation (UNESCO), Organisation for Economic Co-operation and Development (OECD), top genetics organisations and representatives from over 30 countries.9,10 The 96 recommendations published10 indicated the poor state of the field. A further meeting was held in May 2008 and the plans developed from this were recently published.11 Both these meetings and fora organised by HVP, have stimulated much useful activity (see below). In general terms, it is clear that the genomics/ genetics community is working towards not only annotating regulatory regimes and other features in the Encyclopedia of DNA Elements (ENCODE) project12 (http://www.genome.gov/10005107), but also, ultimately, in five to ten years, towards having a standard reference sequence numbered from 1 to 3 109. Each base may have a significance, and this si
Data Loading...
