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  BIOSAPIENS

• The BioSapiens project is funded by the European Commission within its FP6 Programme, under the thematic area "Life sciences, genomics and biotechnology for health,"contract number LHSG-CT-2003-503265.
• It is administered and lead by The European Bionformatics Instiute. See the EBI's Press Release.
• The Biosapiens home page at the EBI
• The Wellcome Trust Centre for Human Genetics is one of the principal investigators in BIOSAPIENS, and this page is the gateway into our work for BIOSAPIENS.
• The principal investigator at the WTCHG is Richard Mott.
Most of the programming work has been carried out by William Valdar.
• Project Description

  As part of BIOSAPIENS, the WTCHG will integrate genetic mapping data for complex disease in humans and in animal models with the Ensembl human, mouse and rat genome browsers, in order to identify functional candidate genes within regions identified by genetic methods, and hence be able to make complex queries into the other work packages? databases.

  There are many mapping projects underway to identify genes associated with complex disease (such as asthma, diabetes, heart disease, cancer), but so far few genes have been proven to be associated. However, often linkage to genomic regions has been established, and in some cases to segments small enough (of the order of a megabase) that computational analysis of the underlying sequence in the region is helpful.

  Consequently, there is a need for software tools that can project genetic mapping data, including haplotypes and disease linkage and association scores onto the annotated genome sequence to identify regulatory elements (such as transcription-factor binding sites and splicing enhancers) and genes, and to mine information about gene function (from several other BIOSAPIENS work, from literature and by computational prediction based on domain composition, protein features, for instance). Ensembl provides a natural conduit for this purpose.

Deliverables

• 07/01/2004 We have implemented a DAS server that adds quantitative trait locus annotation tracks to the Ensembl mouse genome browser. Full documentation
• 2005 Second Annual Report

Drop me an email for more details.