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Medical genetics

An important challenge in medicine and human genetics is to locate disease affecting genes and gene variants, to be able to study diseases, screen for high-risk individuals, and ultimately to help prevent or cure diseases. In spite of intense research there are still many unsolved problems such as understanding the underlying biology of common diseases, how best to address important disease questions with statistics and how to provide efficient computational methods to analysis large-scale data sets.

At BiRC we are involved in different projects, collaborating with local groups at the university and with groups outside the university. For example, we are involved in the development of computational and statistical methods and computer tools for locating disease genes, and for inferring genomic and epigenomic changes in cancer. The amount of data and the complexity of the problems make computer and statistical tools essential for successful studies. With the recent improvements in technologies that now allow simultaneous determination of many thousands (even hundreds of thousands) markers, the analysis of data is becoming the bottleneck of studies, and hence it is increasingly important to develop better and faster analysis methods.

Personnel

Phone numberName, Email, unit (building-room)
+45 8715 5564
Besenbacher, Søren, besen@birc.au.dk, Bioinformatics Research Centre (BiRC) (1110-226)
+45 8715 5565
Foldager, Leslie, leslie.foldager@ki.au.dk, Department of Clinical Medicine - Centre for Psychiatric Research (-)
+45 8716 7762
Grove, Jakob, GROVE@HUM-GEN.AU.DK, Department of Biomedicine - Department of Human Genetics (1242-215)
+45 7845 5364
Lamy, Philippe, philippe.lamy@svf.au.dk, Department of Clinical Medicine - Molekylær medicinsk afdeling (MOMA) (-)
+45 8715 5562
Mailund, Thomas, mailund@cs.au.dk, Bioinformatics Research Centre (BiRC) (1110-326)
+45 8942 3175
Qian, Yu, qianyuxx@cs.au.dk, Bioinformatics Research Centre (BiRC) (-1110-428)
+45 8715 6535
Schierup, Mikkel Heide, mikkel.schierup@biology.au.dk, Department of Bioscience - Genetics and Ecology (1110-323)

Recent publications


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  • Nexø, B. A., Christensen, T., Frederiksen, J., Møller-Larsen, A., Oturai, A. B., Villesen, P., Hansen, B., Nissen, K. K., Laska, M. J., Petersen, T. S., Bonnesen, S., Hedemand, A., Wu, T., Wang, X., Zhang, X., Brudek, T., Maric, R., Søndergaard, H., Sellebjerg, F. T., Brusgaard, K., Kjeldbjerg, A. L., Rasmussen, H. B., Nielsen, A. L., Nyegaard, M., Petersen, T., Børglum, A. D., Pedersen, F. S., 1.1.2011, "The Etiology of Multiple Sclerosis: Genetic Evidence for the Involvement of the Human Endogenous Retrovirus HERV-Fc1", P L o S One, vol. 6, nr. 2, s. e16652. Journal article
  • Østergaard, S. D., Foldager, L., 11.1.2011, "The association between physical illness and major depressive episode in general practice", Acta Psychiatrica Scandinavica, vol. 123, nr. 4, s. 290-296. Journal article
  • Øster, B., Thorsen, K., Lamy, P., Wojdacz, T. K., Hansen, L. L., Birkenkamp-Demtröder, K., Dalsgaard Sørensen, K., Laurberg, S., Ørntoft, T. F., Andersen, C. L., 11.3.2011, "Identification and validation of highly frequent CpG island hypermethylation in colorectal adenomas and carcinomas", International Journal of CancerJournal article
  • Hvidtjørn, D., Grove, J., Schendel, D., Schieve, L., Sværke, C., Ernst, E., Thorsen, P., 6.2011, "Risk of Autism Spectrum Disorders in children born after assisted conception. A population based follow-up study.", Journal of Epidemiology & Community Health, vol. 65, nr. 6, s. 497-502. Journal article
  • Hollegaard, M. V., Grove, J., Grauholm, J., Kreiner-Moller, E., Bonnelykke, K., Nørgaard, M., Benfield, T. L., Norgaard-Pedersen, B., Mortensen, P. B., Mors, O., Sørensen, H. T., Harboe, Z. B., Børglum, A., Demontis, D., Ørntoft, T. F., Bisgaard, H., Hougaard, D. M., 4.7.2011, "Robustness of genome-wide scanning using archived dried blood spot samples as a DNA source", B M C Genetics, vol. 12, nr. 1, s. 58. Journal article
  • Rietschel, M., Mattheisen, M., Degenhardt, F., Kahn, R. S., Linszen, D. H., Os, J. v., Wiersma, D., Bruggeman, R., Cahn, W., de Haan, L., Krabbendam, L., Myin-Germeys, I., Mühleisen, T. W., Kirsch, P., Esslinger, C., Herms, S., Demontis, D., Steffens, M., Strohmaier, J., Haenisch, B., Breuer, R., Czerski, P. M., Giegling, I., Strengman, E., Schmael, C., Mors, O., Mortensen, P. B., Hougaard, D. M., Ørntoft, T. F., Kapelski, P., Kjær, L. P., Basmanav, F. B., Forstner, A. J., Hoffmann, P., Meier, S., Nikitopoulos, J., Moebus, S., Alexander, M., Mössner, R., Wichmann, P. E., Schreiber, S., Rivandeneira, F., Hofman, A., Uitterlinden, A. G., Wienker, T. F., Schumacher, J., Hauser, J., Maier, W., Cantor, R. M., Erk, S., Schulze, T. G., Stefansson, H., Steinberg, S., Gustafsson, O., Sigurdsson, E., Petursson, H., Kong, A., Stefansson, K., Pietiläinen, O. P. H., Tuulio-Henriksson, A., Paunio, T., Lonnqvist, J., Suvisaari, J., Peltonen, L., Ruggeri, M., Tosato, S., Walshe, M., Murray, R., Collier, D. A., Clair, D. S., Hansen, T., Ingason, A., Jakobsen, K. D., Duong, L., Werge, T., Melle, I., Andreassen, O. A., Djurovic, S., Bitter, I., Réthelyi, J. M., Abramova, L., Kaleda, V., Golimbet, V., Jönsson, E. G., Terenius, L., Agartz, I., Winkel, R. v., Kenis, G., Hert, M. D., Veldink, J., Wiuf, C., Didriksen, M., Craddock, N., Owen, M. J., O'Donovan, M. C., Børglum, A. D., Rujescu, D., Walter, H., Meyer-Lindenberg, A., Nöthen, M. M., Ophoff, R. A., Cichon, S., 12.7.2011, "Association between genetic variation in a region on chromosome 11 and schizophrenia in large samples from Europe", Molecular PsychiatryJournal article
  • Reinert, T., Modin, C., Mansilla Castano, F., Lamy, P., Wojdacz, T. K., Hansen, L. L., Wiuf, C., Borre, M., Dyrskjøt, L., Orntoft, T. F., 25.7.2011, "Comprehensive genome methylation analysis in bladder cancer;identification and validation of novel methylated genes and application of these as urinary tumor markers", Clinical Cancer ResearchJournal article
  • Steinberg, S., de Jong, S., Andreassen, O. A., Werge, T., Børglum, A. D., Mors, O., Mortensen, P. B., Gustafsson, O., Costas, J., Pietiläinen, O. P. H., Demontis, D., Papiol, S., Huttenlocher, J., Mattheisen, M., Breuer, R., Vassos, E., Giegling, I., Fraser, G., Walker, N., Tuulio-Henriksson, A., Suvisaari, J., Lönnqvist, J., Paunio, T., Agartz, I., Melle, I., Djurovic, S., Strengman, E., Jürgens, G., Glenthøj, B., Terenius, L., Hougaard, D. M., Orntoft, T., Wiuf, C., Didriksen, M., Hollegaard, M. V., Nordentoft, M., van Winkel, R., Kenis, G., Abramova, L., Kaleda, V., Arrojo, M., Sanjuán, J., Arango, C., Sperling, S., Rossner, M., Ribolsi, M., Magni, V., Siracusano, A., Christiansen, C., Kiemeney, L. A., Veldink, J., van den Berg, L., Ingason, A., Muglia, P., Murray, R., Nöthen, M. M., Sigurdsson, E., Petursson, H., Thorsteinsdottir, U., Kong, A., Rubino, I. A., De Hert, M., Réthelyi, J. M., Bitter, I., Jönsson, E. G., Golimbet, V., Carracedo, A., Ehrenreich, H., Craddock, N., Owen, M. J., O'Donovan, M. C., Ruggeri, M., Tosato, S., Peltonen, L., Ophoff, R. A., Collier, D. A., St Clair, D., Rietschel, M., Cichon, S., Stefansson, H., Rujescu, D., Stefansson, K., , , 26.7.2011, "Common Variants at VRK2 and TCF4 Conferring Risk of Schizophrenia", Human Molecular Genetics, vol. 20, nr. 20, s. 4076-81. Journal article
  • Sahana, G., Mailund, T., Lund, M. S., Guldbrandtsen, B., 11.2011, "Local Genealogies in a Linear Mixed Model for Genome-wide Association Mapping in Complex Pedigreed Populations", P L o S One, vol. 6, nr. 11. Journal article
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Revised 2011.11.16