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Publications
May 2010
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Forzano F, Borry P, Cambon-Thomsen A, Hodgson SV, Tibben A, Vries P, van El C and Cornel M. Italian appeal court: a genetic predisposition to commit murder? European Journal of Human Genetics. 2010. 18, 519–521.
Apr 2010
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Dalgleish R, Flicek P, Cunningham F, Astashyn A, Tully RE, Proctor G, Chen Y, McLaren WM, Larsson P, Vaughan BW, Beroud C, Dobson G, Lehvaslaiho H, Taschner PEM, den Dunnen JT, Devereau A, Birney E, Brookes AJ and Maglott DR. Locus Reference Genomic sequences: an improved basis for describing human DNA variants. Genome Medicine 2010, 2:24.
Mar 2010
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Malone J, Holloway E, Adamusiak T, Kapushesky M, Zheng J, Kolesnikov N, Zhukova A, Brazma A and Parkinson H. Modeling sample variables with an Experimental Factor Ontology. Bioinformatics 2010 26(8):1112-1118.
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Swertz MA, van der Velde KJ, Tesson BM, Scheltema RA, Arends D, Vera G, Alberts R, Dijkstra M, Schofield P, Schughart K, Hancock JM, Smedley D, Wolstencroft K, Goble C, de Brock EO, Jones AR, Parkinson HE, members of the Coordination of Mouse Informatics Resources (CASIMIR), Genotype-To-Phenotype (GEN2PHEN) Consortiums, Jansen RC. XGAP: a uniform and extensible data model and software platform for genotype and phenotype experiments. Genome Biology. 2010 11:R27.
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Mottaz A, David FPA, Veuthey AL and Yip YL. Easy retrieval of single amino-acid polymorphisms and phenotype information using SwissVar. 2010. 26 (6): 851–2.
Apr 2009
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Desmet FO, Hamroun D, Lalande M, Collod-Béroud G, Claustres M, Béroud C. Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res. 2009;37(9):e67. Epub 2009 Apr 1.
Jan 2009
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Tuffery-Giraud S, Béroud C, Leturcq F, Yaou RB, Hamroun D, Michel-Calemard L, Moizard MP, Bernard R, Cossée M, Boisseau P, Blayau M, Creveaux I, Guiochon-Mantel A, de Martinville B, Philippe C, Monnier N, Bieth E, Van Kien PK, Desmet FO, Humbertclaude V, Kaplan JC, Chelly J, Claustres M. Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase. Hum Mutat. 2009 Jun;30(6):934-45.
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Brookes AJ, Lehvaslaiho H, Muilu J, Shigemoto Y, Oroguchi T, Tomiki T, Mukaiyama A, Konagaya A, Kojima T, Inoue I, Kuroda M, Mizushima H, Thorisson GA, D.Dash, Rajeevan H, Darlison MW, M.Woon, Fredman D, Smith AV, Senger M, Naito K and Sugawara H. The Phenotype and Genotype Experiment Object Model (PaGE-OM): A robust data structure for information related to DNA variation. Hum Mutat. 2009 Mar 18. 30(6): 968-977.
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Thorisson GA, Lancaster O, R.C.Free, R.K.Hastings, P.Sarmah, D.Dash,S.Brahmachari and A.J.Brookes. HGVbaseG2P: a Central Genetic Association Database. Nucleic Acids Res. 37:D797-802.
Dec 2008
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Michael H, Hogan J, Kel A, Kel-Margoulis O, Schacherer F, Voss N and Wingender E. Building a knowledge base for systems pathology. Brief Bioinform. 2008 Nov; 9(6):518-31. Epub 2008 Dec 10.
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Kaput J, Cotton RGH, Hardman L, Al Aqeel AI, Al-Aama JY,Al-Mulla F, et al. Planning the Human Variome Project: The Spain Report. Hum Mutat. 30 (4): 496–510.
Apr 2008
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Kauffmann F; Cambon-Thomsen A. Tracing biological collections: between books and clinical trials. JAMA. 2008; 299(19):2316-2318.
Mar 2008
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Gudmundur T, Muilu J & Brookes AJ. Genotype–phenotype databases: challenges and solutions for the post-genomic era. Nature Rev. Gen. 2009:10, 9-18.