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The Genom of Homo sapiens.pdf

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ENSEMBL 215projects <strong>of</strong>ten submit their sequence to the main mRNAsection <strong>of</strong> the EMBL/GenBank/DDBJ repository, andalso, some projects have an appreciable level <strong>of</strong> genomiccontamination or other small ORF-containing transcriptsthat have no similarity to known genes in other organisms.DISCUSSIONEnsembl is one <strong>of</strong> the main genome-management anddisplay systems available for users. We deliver genomeinformation in a variety <strong>of</strong> ways, from website accessthrough to complete downloads and local installations. Indoing so, we are accelerating molecular biology researchworldwide. For example, the Diabetes and InflammationLaboratory (DIL) group at the Cambridge Institute forMedical Research uses Ensembl data access to dramaticallysimplify their in-house gene and SNP discoveryprocesses. Another example is the in-house installation <strong>of</strong>Ensembl at the Center for Human Genetics at Duke University,which allows those researchers to integrate theirwork on genetic disease discovery. Ensembl’s role here isto provide a good infrastructure for genetic and molecularbiology-based research and so free up in-house timeand effort that would otherwise be duplicated acrossmany laboratories worldwide.Ensembl also remains at the forefront <strong>of</strong> trying to understandmore aspects <strong>of</strong> the information stored ingenomes. Of particular interest are comparative genomicsapproaches which leverage the action <strong>of</strong> evolution ongenomes. We have worked extensively with ChrisPonting’s group from Oxford to provide an insight intopositive selection <strong>of</strong> particular genes in mouse and rat. Inthe future, we hope to contribute to the understanding <strong>of</strong>mammalian cis-regulation and other features.ACKNOWLEDGMENTSEnsembl is a large multidisciplinary team, and I thankthe entire team for their effort and enthusiasm over thelast three years. Ensembl is a joint project between theEBI and the Sanger Insitute and is predominantly fundedby the Wellcome Trust, with additional funding from theNational Institutes <strong>of</strong> Health–National Institute <strong>of</strong> Allergicand Infectious Diseases and EMBL.REFERENCESClamp M., Andrews D., Barker D., Bevan P., Cameron G., ChenY., Clark L., Cox T., Cuff J., Curwen V., Down T., Durbin R.,Eyras E., Gilbert J., Hammond M., Hubbard T., Kasprzyk A.,Keefe D., Lehvaslaiho H., Iyer V., Melsopp C., Mongin E.,Pettett R., Potter S., and Rust A., et al. 2003. Ensembl 2002:Accommodating comparative genomics. Nucleic Acids Res.31: 38.Guigó R., Dermitzakis E.T., Agarwal P., Ponting C.P., Parra G.,Reymond A., Abril J.F., Keibler E., Lyle R., Ucla C., AntonarakisS.E., and Brent M.R. 2003. Comparison <strong>of</strong> mouseand human genomes followed by experimental verificationyields an estimated 1,019 additional genes. Proc. Natl. Acad.Sci. 100: 1140.Lander E.S., Linton L.M., Birren B., Nusbaum C., Zody M.C.,Baldwin J., Devon K., Dewar K., Doyle M., FitzHugh W.,Funke R., Gage D., Harris K., Heaford A., Howland J., KannL., Lehoczky J., LeVine R., McEwan P., McKernan K.,Meldrim J., Mesirov J.P., Miranda C., Morris W., and NaylorJ., et al. (International Human <strong>Genom</strong>e Sequencing Consortium).2001. Initial sequencing and analysis <strong>of</strong> the humangenome. Nature 409: 860.Waterston R.H., Lindblad-Toh K., Birney E., Rogers J., AbrilJ.F., Agarwal P., Agarwala R., Ainscough R., AlexanderssonM., An P., Antonarakis S.E., Attwood J., Baertsch R., BaileyJ., Barlow K., Beck S., Berry E., Birren B., Bloom T., BorkP., Botcherby M., Bray N., Brent M.R., Brown D.G., andBrown S.D., et al. (Mouse <strong>Genom</strong>e Sequencing Consortium).2002. Initial sequencing and comparative analysis <strong>of</strong> themouse genome. Nature 420: 520.

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