Søren Brunak

Search results

• 2025

  A genome-wide association meta-analysis links hidradenitis suppurativa to common and rare sequence variants causing disruption of the Notch and Wnt/β-catenin signaling pathways

  Kjærsgaard Andersen, R., Stefansdottir, L., Riis, P. T., Halldorsson, G., Ferkingstad, E., Oddsson, A., Walters, B., Olafsdottir, T. A., Rutsdottir, G., Zachariae, C., Thomsen, S. F., Brodersen, T., Dinh, K. M., Knowlton, K. U., Knight, S., Nadauld, L. D., Banasik, K., Brunak, S., Hansen, T. F., Hjalgrim, H. & 23 others, Sørensen, E., Mikkelsen, C., Ullum, H., Nyegaard, M., Bruun, M. T., Erikstrup, C., Ostrowski, S. R., Eidsmo, L., Saunte, D. M. L., Sigurgeirsson, B., Orvar, K. B., Saemundsdottir, J., Melsted, P., Norddahl, G. L., Sulem, P., Stefansson, H., Holm, H., Gudbjartsson, D., Thorleifsson, G., Jonsdottir, I., Pedersen, O. B. V., Jemec, G. B. E. & Stefansson, K., 2025, (Accepted/In press) In: Journal of the American Academy of Dermatology. 12 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

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• Assessment of Drug Impact on Laboratory Test Results in Hospital Settings

  Muse, V. P., Haue, A. D., Rodríguez, C. L., Orozco, A. A., Biel, J. H. & Brunak, S., 2025, In: Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing. 30, p. 360-376 17 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

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• Automated stenosis estimation of coronary angiographies using end-to-end learning

  Eschen, C. K., Banasik, K., Dahl, A. B., Chmura, P. J., Bruun-Rasmussen, P., Pedersen, F., Køber, L., Engstrøm, T., Bøttcher, M., Winther, S., Christensen, A. H., Bundgaard, H. & Brunak, S., 2025, (E-pub ahead of print) In: International Journal of Cardiovascular Imaging.

  Research output: Contribution to journal › Journal article › Research › peer-review

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• LSD600: The first corpus of biomedical abstracts annotated with lifestyle-disease relations

  Nourani, E., Makri, E. M., Mao, X., Pyysalo, S., Brunak, S., Nastou, K. & Jensen, L. J., 2025, In: Database. 2025, 8 p., baae129.

  Research output: Contribution to journal › Journal article › Research › peer-review

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• No association between migraine and HLA alleles in a cohort of 13,210 individuals with migraine from the Danish Blood Donor Study

  Tummoszeit, I. Z., Olofsson, I. A., Chalmer, M. A., Henriksen, A. P., Jensen, B. A., Brunak, S., Bruun, M. T., Didriksen, M., Erikstrup, C., Hjalgrim, H., Mikkelsen, C., Mikkelsen, S., Ostrowski, S. R., Pedersen, O. B. V., Quinn, L., Sørensen, E., Ullum, H., Olesen, J., Banasik, K., Hansen, T. F. & 2 others, Kogelman, L. J. A. & the DBDS Genomic consortium group, 2025, In: Headache. 65, 1, p. 124-131 8 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

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• Targeted serum proteomics of longitudinal samples from newly diagnosed youth with type 1 diabetes affirms markers of disease

  Moulder, R., Hirvonen, M. K., Välikangas, T., Suomi, T., Overbergh, L., Peakman, M., Brunak, S., Mathieu, C., Knip, M., Elo, L. L., Lahesmaa, R. & on behalf of the INNODIA consortium, 2025, (Accepted/In press) In: Diabetologia.

  Research output: Contribution to journal › Journal article › Research › peer-review

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• Trans-ancestry genome-wide study of depression identifies 697 associations implicating cell types and pharmacotherapies

  Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, 2025, In: Cell. 188, 3, p. 640-652.e9

  Research output: Contribution to journal › Journal article › Research › peer-review

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• 2024

  Adopting Mechanistic Molecular Biology Approaches in Exposome Research for Causal Understanding

  Foreman, A. L., Warth, B., Hessel, E. V. S., Price, E. J., Schymanski, E. L., Cantelli, G., Parkinson, H., Hecht, H., Klánová, J., Vlaanderen, J., Hilscherova, K., Vrijheid, M., Vineis, P., Araujo, R., Barouki, R., Vermeulen, R., Lanone, S., Brunak, S., Sebert, S. & Karjalainen, T., 2024, In: Environmental Science and Technology. 58, 17, p. 7256-7269 14 p.

  Research output: Contribution to journal › Review › Research › peer-review

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  5 Citations (Scopus)

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• A genome-wide association study of social trust in 33,882 Danish blood donors

  Sequeros, C. B., Hansen, T. F., Westergaard, D., Louloudis, I., Kalamajski, S., Röder, T., Rohde, P. D., Schwinn, M., Clemmensen, L. H., Didriksen, M., Nyegaard, M., Hjalgrim, H., Nielsen, K. R., Bruun, M. T., Ostrowski, S. R., Erikstrup, C., Mikkelsen, S., Sørensen, E., Pedersen, O. B. V., Brunak, S. & 3 others, Banasik, K., Giordano, G. N. & DBDS Genomic Consortium, 2024, In: Scientific Reports. 14, 12 p., 1402.

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• A partial loss-of-function variant in STAT6 protects against type 2 asthma

  Kristjansdottir, K., Norddahl, G. L., Ivarsdottir, E. V., Halldorsson, G. H., Einarsson, G., Bjarnadottir, K., Rutsdottir, G., Arnthorsson, A. O., Erikstrup, C., Gudmundsdottir, S., Gunnarsdottir, K., Gunnbjornsdottir, M. I., Halldorsson, B. V., Holm, H., Ludviksdottir, D., Ludviksson, B. R., Brunak, S., Bruun, M. T., Mikkelsen, C., Mikkelsen, S. & 25 others, Jensen, B. A., Sørensen, E., Thomsen, S. F., Ullum, H., Olafsson, I., Onundarson, P. T., Ostrowski, S. R., Saevarsdottir, S., Sigurdardottir, O., Sigurgeirsson, B., Snaebjarnarson, A. S., Sveinbjornsson, G., Thorlacius, G. E., Thorleifsson, G., Tragante, V., Vidarsson, B., Porsbjerg, C., Bjornsdottir, U. S., Sulem, P., Gudbjartsson, D. F., Melsted, P., Pedersen, O. B. V., Jonsdottir, I., Olafsdottir, T. A. & Stefansson, K., 2024, In: Journal of Allergy and Clinical Immunology. 155, 1, p. 228-235 8 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

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• Artificial intelligence-aided data mining of medical records for cancer detection and screening

  Haue, A. D., Hjaltelin, J. X., Holm, P. C., Placido, D. & Brunak, S., 2024, In: The Lancet Oncology. 25, 12, p. e694-e703 10 p.

  Research output: Contribution to journal › Review › Research › peer-review

• Clonal hematopoiesis and COVID-19 hospitalization in Danish adults

  Burgos Sequeros, C., Tulstrup, M., Bliddal, S., Sørensen, K. M., Nissen, I., Rezahosseini, O., Brooks, P. T., Feenstra, B., Gang, A. O., Geller, F., Hald, A., Harboe, Z. B., Helleberg, M., Jespersen, J. S., Lebech, A. M., Lindegaard, B., Mogensen, T. H., Møller, M. E. E., Nielsen, C. H., Niemann, C. U. & 13 others, Podlekareva, D., Sejdic, A., Sørensen, E., Teglgaard, R. S., Tommerup, N., Weis, N., Brunak, S., Pedersen, O. B. V., Banasik, K., Feldt-Rasmussen, U., Nielsen, S. D., Ostrowski, S. R. & Grønbæk, K., 2024, In: HemaSphere. 8, 3, 5 p., e58.

  Research output: Contribution to journal › Letter › Research › peer-review

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• Determinants of plasma levels of proglucagon and the metabolic impact of glucagon receptor signalling: a UK Biobank study

  Winther-Sørensen, M., Garcia, S. L., Bartholdy, A., Ottenheijm, M. E., Banasik, K., Brunak, S., Sørensen, C. M., Gluud, L. L., Knop, F. K., Holst, J. J., Rosenkilde, M. M., Jensen, M. K. & Wewer Albrechtsen, N. J., 2024, In: Diabetologia. 67, p. 1602–1615

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• Disease Trajectories from Healthcare Data: Methodologies, Key Results, and Future Perspectives

  Jørgensen, I. F., Haue, A. D., Placido, D., Hjaltelin, J. X. & Brunak, S., 2024, In: Annual Review of Biomedical Data Science. 7, p. 251-276 26 p.

  Research output: Contribution to journal › Review › peer-review

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• Finding Ophthalmic Risk and Evaluating the Value of Eye exams and their predictive Reliability (FOREVER)—A cohort study in a Danish high street optician setting: Design and methodology

  Freiberg, J., Rovelt, J., Gazzard, G., Cour, M. L., Kolko, M., Torp‐Pedersen, C., Benn, M., Brunak, S., Cour, M. L., Tolstrup, J., Toft‐Petersen, A. P., Burgdorf, K. S., Banasik, K., Chmura, P. J., Freiberg, J., Rovelt, J., Thornit, D. N., Foster, P., Gazzard, G., Crabb, D. P. & 4 others, Viswanathan, A., Barman, S., Owen, C. G. & Rudnicka, A. R., 2024, In: Acta Ophthalmologica. 102, 1, p. 80-90 11 p.

  Research output: Contribution to journal › Journal article › Research › peer-review
  4 Citations (Scopus)

• Gene-based burden tests of rare germline variants identify six cancer susceptibility genes

  Ivarsdottir, E. V., Gudmundsson, J., Tragante, V., Sveinbjornsson, G., Kristmundsdottir, S., Stacey, S. N., Halldorsson, G. H., Magnusson, M. I., Oddsson, A., Walters, G. B., Sigurdsson, A., Saevarsdottir, S., Beyter, D., Thorleifsson, G., Halldorsson, B. V., Melsted, P., Stefansson, H., Jonsdottir, I., Sørensen, E., Pedersen, O. B. & 30 others, Erikstrup, C., Bøgsted, M., Pøhl, M., Røder, A., Stroomberg, H. V., Gögenur, I., Hillingsø, J., Bojesen, S. E., Lassen, U., Høgdall, E., Ullum, H., Brunak, S., Ostrowski, S. R., Sonderby, I. E., Frei, O., Djurovic, S., Havdahl, A., Moller, P., Dominguez-Valentin, M., Haavik, J., Andreassen, O. A., Hovig, E., Agnarsson, B. A., Hilmarsson, R., Johannsson, O. T., Valdimarsson, T., Jonsson, S., Moller, P. H., Olafsson, J. H. & DBDS Genomic Consortium, 2024, In: Nature Genetics. 56, p. 2422–2433 12 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

• Genome-wide association analysis provides insights into the molecular etiology of dilated cardiomyopathy

  Zheng, S. L., Henry, A., Cannie, D., Lee, M., Miller, D., McGurk, K. A., Bond, I., Xu, X., Issa, H., Francis, C., De Marvao, A., Theotokis, P. I., Buchan, R. J., Speed, D., Abner, E., Adams, L., Aragam, K. G., Ärnlöv, J., Raja, A. A., Backman, J. D. & 34 others, Baksi, J., Barton, P. J. R., Biddinger, K. J., Boersma, E., Brandimarto, J., Brunak, S., Bundgaard, H., Carey, D. J., Charron, P., Cook, J. P., Cook, S. A., Denaxas, S., Deleuze, J. F., Doney, A. S., Elliott, P., Erikstrup, C., Esko, T., Farber-Eger, E. H., Finan, C., Garnier, S., Ghouse, J., Giedraitis, V., Guðbjartsson, D. F., Haggerty, C. M., Halliday, B. P., Lind, L., Ostrowski, S. R., Pedersen, O. B. V., Ullum, H., Pedersen, O. B. V., COVIDsortium, DBDS Genomic Consortium, Estonian Biobank Research Team & HERMES Consortium, 2024, In: Nature Genetics. 56, 12, p. 2646–2658 32 p.

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• Genome-Wide Association Study of Accessory Atrioventricular Pathways

  Aegisdottir, H. M., Andreasen, L., Thorolfsdottir, R. B., Sveinbjornsson, G., Jonsdottir, A. B., Stefansdottir, L., Thorleifsson, G., Sigurdsson, A., Halldorsson, G. H., Barc, J., Simonet, F., Tragante, V., Oddsson, A., Ferkingstad, E., Svendsen, J. H., Ghouse, J., Ahlberg, G., Paludan-Müller, C., Hadji-Turdeghal, K., Bustamante, M. & 24 others, Ulfarsson, M. O., Helgadottir, A., Gretarsdottir, S., Saevarsdottir, S., Jonsdottir, I., Erikstrup, C., Ullum, H., Sørensen, E., Brunak, S., Jøns, C., Zheng, C., Bezzina, C. R., Knowlton, K. U., Nadauld, L. D., Sulem, P., Ostrowski, S. R., Pedersen, O. B., Arnar, D. O., Gudbjartsson, D. F., Olesen, M. S., Bundgaard, H., Holm, H., Stefansson, K. & DBDS Consortium, 2024, In: JAMA Cardiology. 9, 11, p. 1053-1058

  Research output: Contribution to journal › Journal article › Research › peer-review

• Genome-wide association study reveals a locus in ADARB2 for complete freedom from headache in Danish Blood Donors

  Olofsson, I. A., Kristjansson, R. P., Callesen, I., Davidsson, O., Winsvold, B., Hjalgrim, H., Ostrowski, S. R., Erikstrup, C., Bruun, M. T., Pedersen, O. B., Burgdorf, K. S., Banasik, K., Sørensen, E., Mikkelsen, C., Didriksen, M., Dinh, K. M., Mikkelsen, S., Brunak, S., Ullum, H., Chalmer, M. A. & 5 others, Olesen, J., Kogelman, L. J. A., Hansen, T. F., International Headache Genetic Consortium & DBDS Genomic Consortium, 2024, In: Communications Biology . 7, 1, 7 p., 646.

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• Gut microbiome shifts in people with type 1 diabetes are associated with glycaemic control: an INNODIA study

  Vatanen, T., de Beaufort, C., Marcovecchio, M. L., Overbergh, L., Brunak, S., Peakman, M., Mathieu, C. & Knip, M., 2024, In: Diabetologia. 67, 9, p. 1930-1942 13 p.

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  4 Citations (Scopus)

• GWAS meta-analysis reveals key risk loci in essential tremor pathogenesis

  Estonian Biobank & DBDS Genomic Consortium, 2024, In: Communications Biology . 7, 1, 10 p., 504.

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• High-dimensional profiling demonstrates complexity, tissue imprinting, and lineage-specific precursors within the mononuclear phagocyte compartment of the human intestine

  Fenton, T. M., Wulff, L., Jones, G-R., Vandamme, J., Jørgensen, P. B., Bain, C. C., Lee, J., Izarzugaza, J. M., Belling, K. G., Ho, G-T., Nielsen, O. H., Riis, L. B., Pers, T. H., Jakobsen, H. L., Mowat, A. M., Brunak, S. & Agace, W. W., 2024, 123 p.

  Research output: Working paper › Preprint › Research

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• Immune changes in pregnancy: associations with pre-existing conditions and obstetrical complications at the 20th gestational week—a prospective cohort study

  Westergaard, D., Lundgaard, A. T., Vomstein, K., Fich, L., Hviid, K. V. R., Egerup, P., Christiansen, A. M. H., Nielsen, J. R., Lindman, J., Holm, P. C., Hartwig, T. S., Jørgensen, F. S., Zedeler, A., Kolte, A. M., Westh, H., Jørgensen, H. L., la Cour Freiesleben, N., Banasik, K., Brunak, S. & Nielsen, H. S., 2024, In: BMC Medicine. 22, 1, 15 p., 583.

  Research output: Contribution to journal › Journal article › Research › peer-review

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• Impact of CCR5Δ32 on the risk of infection, Staphylococcus aureus carriage, and plasma concentrations of chemokines in Danish blood donors

  Dinh, K. M., Kaspersen, K. A., Mikkelsen, S., Kjerulff, B. D., Boldsen, J. K., Petersen, M. S., Burgdorf, K. S., Sørensen, E., Aagaard, B., Forman-Ankjær, B., Bruun, M. T., Banasik, K., Hansen, T. F., Nyegaard, M., Rohde, P. D., Brunak, S., Hjalgrim, H., Ostrowski, S. R., Pedersen, O. B., Ullum, H. & 2 others, Erikstrup, L. T. & Erikstrup, C., 2024, In: EBioMedicine. 109, 11 p., 105406.

  Research output: Contribution to journal › Journal article › Research › peer-review

• Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis

  Ghouse, J., Sveinbjörnsson, G., Vujkovic, M., Seidelin, A-S., Gellert-Kristensen, H., Ahlberg, G., Tragante, V., Rand, S. A., Brancale, J., Vilarinho, S., Lundegaard, P. R., Sørensen, E., Erikstrup, C., Bruun, M. T., Jensen, B. A., Brunak, S., Banasik, K., Ullum, H., Verweij, N., Lotta, L. & 31 others, Baras, A., Mirshahi, T., Carey, D. J., Kaplan, D. E., Lynch, J., Morgan, T., Schwantes-An, T-H., Dochtermann, D. R., Pyarajan, S., Tsao, P. S., Laisk, T., Mägi, R., Kozlitina, J., Tybjærg-Hansen, A., Jones, D., Knowlton, K. U., Nadauld, L., Ferkingstad, E., Björnsson, E. S., Ulfarsson, M. O., Sturluson, Á., Sulem, P., Pedersen, O. B., Ostrowski, S. R., Gudbjartsson, D. F., Stefansson, K., Olesen, M. S., Chang, K-M., Bundgaard, H., Stender, S. & DBDS Genomic Consortium, 2024, In: Nature Genetics. 56, p. 827–837 18 p.

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• Lifestyle and demographic associations with 47 inflammatory and vascular stress biomarkers in 9876 blood donors

  Kjerulff, B., Dowsett, J., Jacobsen, R. L., Gladov, J., Larsen, M. H., Lundgaard, A. T., Banasik, K., Westergaard, D., Mikkelsen, S., Dinh, K. M., Hindhede, L., Kaspersen, K. A., Schwinn, M., Juul, A., Poulsen, B., Lindegaard, B., Pedersen, C. B., Sabel, C. E., Bundgaard, H., Nielsen, H. S. & 30 others, Møller, J. A., Boldsen, J. K., Burgdorf, K. S., Kessing, L. V., Handgaard, L. J., Thørner, L. W., Didriksen, M., Nyegaard, M., Grarup, N., Ødum, N., Johansson, P. I., Jennum, P., Frikke-Schmidt, R., Berger, S. S., Brunak, S., Jacobsen, S., Hansen, T. F., Lundquist, T. K., Hansen, T., Sørensen, T. L., Sigsgaard, T., Nielsen, K. R., Bruun, M. T., Hjalgrim, H., Ullum, H., Rostgaard, K., Sørensen, E., Pedersen, O. B., Ostrowski, S. R. & Erikstrup, C., 2024, In: Communications Medicine. 4, 15 p., 50.

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• Lifestyle factors in the biomedical literature: an ontology and comprehensive resources for named entity recognition

  Nourani, E., Koutrouli, M., Xie, Y., Vagiaki, D., Pyysalo, S., Nastou, K., Brunak, S. & Jensen, L. J., 2024, In: Bioinformatics. 40, 11, 8 p., btae613.

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• Longitudinal metabolite and protein trajectories prior to diabetes mellitus diagnosis in Danish blood donors: a nested case–control study

  Lundgaard, A. T., Westergaard, D., Röder, T., Burgdorf, K. S., Larsen, M. H., Schwinn, M., Thørner, L. W., Sørensen, E., Nielsen, K. R., Hjalgrim, H., Erikstrup, C., Kjerulff, B. D., Hindhede, L., Hansen, T. F., Nyegaard, M., Birney, E., Stefansson, H., Stefánsson, K., Pedersen, O. B. V., Ostrowski, S. R. & 7 others, Rossing, P., Ullum, H., Mortensen, L. H., Vistisen, D., Banasik, K., Brunak, S. & DBDS Genomic Consortium, 2024, In: Diabetologia. 67, p. 2289–2303 15 p.

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• Multi-cancer risk stratification based on national health data: a retrospective modelling and validation study

  Jung, A. W., Holm, P. C., Gaurav, K., Hjaltelin, J. X., Placido, D., Mortensen, L. H., Birney, E., Brunak, S. & Gerstung, M., 2024, In: The Lancet Digital Health. 6, 6, p. e396-e406 11 p.

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• Multi-omics analysis reveals drivers of loss of β-cell function after newly diagnosed autoimmune type 1 diabetes: An INNODIA multicenter study

  the INNODIA investigators, 2024, In: Diabetes/Metabolism Research and Reviews. 40, 5, 15 p., e3833.

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• Novel loci and biomedical consequences of iron homoeostasis variation

  Allara, E., Bell, S., Smith, R., Keene, S. J., Gill, D., Gaziano, L., Morselli Gysi, D., Wang, F., Tragante, V., Mason, A., Karthikeyan, S., Lumbers, R. T., Bonglack, E., Ouwehand, W., Roberts, D. J., Dowsett, J., Ostrowski, S. R., Larsen, M. H., Ullum, H., Pedersen, O. B. & 30 others, Brunak, S., Banasik, K., Erikstrup, C., Westergaard, D., Werge, T., Topholm Bruun, M., Þorsteinsdóttir, U., Thørner, L. W., Stefánsson, H., Stefansson, K., Sørensen, E., Schwinn, M., Rostgaard, K., Rohde, P. D., Rafnar, Þ., Quinn, L. J. E., Nyegaard, M., Nissen, J., Mikkelsen, C., Kongstad, M., Schork, A. J., Hjorth von Stemann, J., Hjalgrim, H., Hansen, T. F., Didriksen, M., Christoffersen, L. A. N., Demur, A. B., Bay, J., DBDS Genomic Consortium & FinnGen Consortium, 2024, In: Communications Biology . 7, 1, 17 p., 1631.

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• Obesity variants in the GIPR gene do not associate with risk of fracture or bone mineral density

  Styrkarsdottir, U., Tragante, V., Stefansdottir, L., Thorleifsson, G., Oddsson, A., Sørensen, E., Erikstrup, C., Schwarz, P., Jørgensen, H. L., Lauritzen, J. B., Brunak, S., Knowlton, K. U., Nadauld, L. D., Ullum, H., Pedersen, O. B. V., Ostrowski, S. R., Holm, H., Gudbjartsson, D. F., Sulem, P. & Stefansson, K., 2024, In: Journal of Clinical Endocrinology and Metabolism. 109, 8, p. e1608–e1615 8 p.

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• Protocol for EHR laboratory data preprocessing and seasonal adjustment using R and RStudio

  Muse, V. P. & Brunak, S., 2024, In: STAR Protocols. 5, 1, 11 p., 102912.

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• Role of human plasma metabolites in prediabetes and type 2 diabetes from the IMI-DIRECT study

  Sharma, S., Dong, Q., Haid, M., Adam, J., Bizzotto, R., Fernandez-Tajes, J. J., Jones, A. G., Tura, A., Artati, A., Prehn, C., Kastenmüller, G., Koivula, R. W., Franks, P. W., Walker, M., Forgie, I. M., Giordano, G., Pavo, I., Ruetten, H., Dermitzakis, M., McCarthy, M. I. & 12 others, Pedersen, O., Schwenk, J. M., Tsirigos, K. D., De Masi, F., Brunak, S., Viñuela, A., Mari, A., McDonald, T. J., Kokkola, T., Adamski, J., Pearson, E. R. & Grallert, H., 2024, In: Diabetologia. 67, 12, p. 2804-2818 15 p.

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• Seasonally adjusted laboratory reference intervals to improve the performance of machine learning models for classification of cardiovascular diseases

  Muse, V. P., Placido, D., Haue, A. D. & Brunak, S., 2024, In: BMC Medical Informatics and Decision Making. 24, 1, 11 p., 62.

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• SignalP: The Evolution of a Web Server

  Nielsen, H., Teufel, F., Brunak, S. & von Heijne, G., 2024, Protein Bioinformatics. Lisacek, F. (ed.). Vol. 2836. p. 331-367 37 p. (Methods in molecular biology (Clifton, N.J.)).

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• Stratification of Kidney Transplant Recipients Into Five Subgroups Based on Temporal Disease Trajectories

  Jørgensen, I. F., Muse, V. P., Aguayo-Orozco, A., Brunak, S. & Sørensen, S. S., 2024, In: Transplantation Direct. 10, 2, 11 p., e1576.

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• Text mining of electronic health records can validate a register-based diagnosis of epilepsy and subgroup into focal and generalized epilepsy

  Vulpius, S. A., Werge, S., Jørgensen, I. F., Siggaard, T., Hernansanz Biel, J., Knudsen, G. M., Brunak, S. & Pinborg, L. H., 2024, In: Epilepsia. 64, 10, p. 2750-2760 11 p.

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• The association of cardiometabolic, diet and lifestyle parameters with plasma glucagon-like peptide-1: An IMI DIRECT study

  Eriksen, R., White, M. C., Dawed, A. Y., Perez, I. G., Posma, J. M., Haid, M., Sharma, S., Prehn, C., Thomas, L. E., Koivula, R. W., Bizzotto, R., Mari, A., Giordano, G. N., Pavo, I., Schwenk, J. M., De Masi, F., Tsirigos, K. D., Brunak, S., Viñuela, A., Mahajan, A. & 26 others, McDonald, T. J., Kokkola, T., Rutters, F., Beulens, J., Muilwijk, M., Blom, M., Elders, P., Hansen, T. H., Fernandez-Tajes, J., Jones, A., Jennison, C., Walker, M., McCarthy, M. I., Pedersen, O., Ruetten, H., Forgie, I., Holst, J. J., Thomsen, H. S., Ridderstråle, M., Bell, J. D., Adamski, J., Franks, P. W., Hansen, T., Holmes, E., Frost, G. & Pearson, E. R., 2024, In: Journal of Clinical Endocrinology and Metabolism. 109, 9, p. e1697–e1707

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• The robot butler: How and why should we study predictive algorithms and artificial intelligence (AI) in healthcare?

  Gjødsbøl, I. M., Ringgaard, A. K., Holm, P. C., Brunak, S. & Bundgaard, H., 2024, In: Digital Health. 10, 13 p.

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• Trigeminal neuralgia and its comorbidities: a nationwide disease trajectory study

  Worm, J., Jørgensen, I. F., Davídsson, Ó. B., Hjalgrim, H., Röder, T., Ostrowski, S. R., Pedersen, O. B., Erikstrup, C., Bruun, M. T., Jensen, B. A., Sørensen, E., Ullum, H., Björnsdóttir, G., Thorgeirsson, T., Stefánsson, H., Sveinsson, Ó. Á., Stefansson, K., Schytz, H. W., Bendtsen, L., Brunak, S. & 3 others, Hansen, T. F., Maarbjerg, S. & DBDS Genomic Consortium, 2024, (E-pub ahead of print) In: Pain.

  Research output: Contribution to journal › Journal article › Research › peer-review

• Uncovering the heritable components of multimorbidities and disease trajectories using a nationwide cohort

  Westergaard, D., Jørgensen, F. H., Waaben, J., Jung, A. W., Lademann, M., Hansen, T. F., Cremers, J., Ostrowski, S. R., Pedersen, O. B. V., Reguant, R., Jørgensen, I. F., Fitzgerald, T., Birney, E., Banasik, K., Mortensen, L., Brunak, S. & Danish Blood Donor Study Genomic Consortium, 2024, In: Nature Communications. 15, 1, 11 p., 7457.

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• Variant in the synaptonemal complex protein SYCE2 associates with pregnancy loss through effect on recombination

  Steinthorsdottir, V., Halldorsson, B. V., Jonsson, H., Palsson, G., Oddsson, A., Westergaard, D., Arnadottir, G. A., Stefansdottir, L., Banasik, K., Esplin, M. S., Hansen, T. F., Brunak, S., Nyegaard, M., Ostrowski, S. R., Pedersen, O. B. V., Erikstrup, C., Thorleifsson, G., Nadauld, L. D., Haraldsson, A., Steingrimsdottir, T. & 8 others, Tryggvadottir, L., Jonsdottir, I., Gudbjartsson, D. F., Hoffmann, E. R., Sulem, P., Holm, H., Nielsen, H. S. & Stefansson, K., 2024, In: Nature Structural and Molecular Biology. 31, 4, p. 710-716 17 p.

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• Variants at the Interleukin 1 Gene Locus and Pericarditis

  Thorolfsdottir, R. B., Jonsdottir, A. B., Sveinbjornsson, G., Aegisdottir, H. M., Oddsson, A., Stefansson, O. A., Halldorsson, G. H., Saevarsdottir, S., Thorleifsson, G., Stefansdottir, L., Pedersen, O. B., Sørensen, E., Ghouse, J., Raja, A. A., Zheng, C., Silajdzija, E., Rand, S. A., Erikstrup, C., Ullum, H., Mikkelsen, C. & 26 others, Banasik, K., Brunak, S., Ivarsdottir, E. V., Sigurdsson, A., Beyter, D., Sturluson, A., Einarsson, H., Tragante, V., Helgason, H., Lund, S. H., Halldorsson, B. V., Sigurpalsdottir, B. D., Olafsson, I., Arnar, D. O., Thorgeirsson, G., Knowlton, K. U., Nadauld, L. D., Gretarsdottir, S., Helgadottir, A., Ostrowski, S. R., Gudbjartssson, D. F., Jonsdottir, I., Bundgaard, H., Holm, H., Sulem, P. & Stefansson, K., 2024, In: JAMA Cardiology. 9, 2, p. 165-172 8 p.

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  11 Citations (Scopus)
• 2023

  Abnormal serum levels of magnesium, phosphate, and zinc in ICU patients—Characteristics, management, and outcomes: The WhyTrace cohort study

  Vesterlund, G. K., Thorsen-Meyer, H. C., Møller, M. H., Brunak, S., Strøm, T., Perner, A. & Kaas-Hansen, B. S., 2023, In: Acta Anaesthesiologica Scandinavica. 67, 7, p. 925-935 11 p.

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• A deep learning algorithm to predict risk of pancreatic cancer from disease trajectories

  Placido, D., Yuan, B., Hjaltelin, J. X., Zheng, C., Haue, A. D., Chmura, P. J., Yuan, C., Kim, J., Umeton, R., Antell, G., Chowdhury, A., Franz, A., Brais, L., Andrews, E., Marks, D. S., Regev, A., Ayandeh, S., Brophy, M. T., Do, N. V., Kraft, P. & 5 others, Wolpin, B. M., Rosenthal, M. H., Fillmore, N. R., Brunak, S. & Sander, C., 2023, In: Nature Medicine. 29, p. 1113-1122

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• An atlas of genetic determinants of forearm fracture

  Nethander, M., Movérare-Skrtic, S., Kämpe, A., Coward, E., Reimann, E., Grahnemo, L., Borbély, É., Helyes, Z., Funck-Brentano, T., Cohen-Solal, M., Tuukkanen, J., Koskela, A., Wu, J., Li, L., Lu, T., Gabrielsen, M. E., Mägi, R., Hoff, M., Lerner, U. H., Henning, P. & 15 others, Ullum, H., Erikstrup, C., Brunak, S., Langhammer, A., Tuomi, T., Oddsson, A., Stefansson, K., Pettersson-Kymmer, U., Ostrowski, S. R., Pedersen, O. B. V., Styrkarsdottir, U., Mäkitie, O., Hveem, K., Richards, J. B. & Ohlsson, C., 2023, In: Nature Genetics. 55, 11, p. 1820-1830 11 p.

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• An Increase in Specialist Treatment for Onychomycosis: An Unexplained Tendency. A Retrospective Study of Patients Treated for Onychomycosis in Danish Hospitals from 1994 to 2018

  Andersen, P. L., Jørgensen, I. F., Saunte, D. M. L., Jemec, G. B., Pedersen, O. B. & Brunak, S., 2023, In: Journal of Fungi. 9, 1, 7 p., 33.

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• A second update on mapping the human genetic architecture of COVID-19

  Kanai, M., Andrews, S., Cordioli, M., Stevens, C., Neale, B. M., Daly, M., Ganna, A., Pathak, G. A., Ellinghaus, D., Banasik, K., Brunak, S., Pedersen, O. B., Westergaard, D., Sequeros, C. B., Nissen, J., Feldt-Rasmussen, U., Grønbæk, K., Ostrowski, S. R., Guindo-Martinez, M., Garcia, S. M. & 70 others, Hjalgrim, H., Admin team lead, Admin team member, Analysis team lead, Analysis team member, Data collection lead, Data collection member, Manuscript analysis team lead, Manuscript analysis team members: Mendelian randomization, Manuscript analysis team members: methods development, Manuscript analysis team members: phenome-wide association study, Manuscript analysis team members: principal component projection, gene prioritization, Project management lead, Scientific communication lead, Scientific communication member, Writing group lead, Writing group member, 23andMe, Adolescent brain and cognitive development study, Analysis group, Armenia_Covid-19hg, Assessment of the influence of clinical, functional, immunological and genetic factors on the severity of the course of coronavirus infection with SARS-CoV-2 and post-COVID syndrome, Avon Longitudinal Study of Parents and Children (ALSPAC), BelCovid, Biobanque Quebec COVID19, BioVU, Bonn Study of COVID-19 Genetics, CGEn HostSeq—Canadian COVID-19 Human Host Genome Sequencing Databank, Colorado Center for Personalized Medicine—CCPM, COMRI/Virology Study, Covid19 Ioannina Biobank, COVID19-Host(a)ge, Covid19hg-CL, Danish COVID-19 Genomic Consortium, Egypt hgCOVID hub, EraCORE, FinnGen, French hgCOVID, GCAT. Genomes For Life, Genes & Health, Genetic influences on severity of COVID-19 illness in Korea, GenOMICC, Genotek COVID-19 study, Helix Exome+ COVID-19 Phenotypes, Host Genetic Factors for COVID-19 Severity and Outcome in Western Indian Population, Host Genetics in COVID Cohorts of Mixed ancestry from Mexico, Japan Coronavirus Taskforce, Japan NCGM-COVID19, Jordan COVID-19 Host Genomics Initiative (JCHGI), Leadership, Lung eQTL Consortium, Mass General Brigham—Host Vulnerability to COVID-19, MexGen-COVID, Pa-COVID-19, Project management group, Project management support, Qatar Genome Program, SARS-CoV-2 and Host Genome sequencing, Scientific communication group, Search for Genomic Markers Predicting the Severity of the response to COVID-19, Spanish COalition to Unlock Research on host GEnetics on COVID-19 (SCOURGE), The Danish Blood Donor Study, The Genetic Predisposition to severe COVID-19, Tirschenreuth Study (TiKoco), UCLA Precision Health COVID-19 Host Genomics Biobank, UK Biobank, Variability in Immune Response Genes and Severity of SARS-CoV-2 Infection (INMUNGEN-CoV2 study), Website development, Writing Group & The COVID-19 Host Genetics Initiative, 2023, In: Nature. 621, 7977, p. E7-E26 23 p.

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• Associations of ABO and Rhesus D blood groups with phenome-wide disease incidence: A 41-year retrospective cohort study of 482,914 patients

  Bruun-Rasmussen, P., Dziegiel, M. H., Banasik, K., Johansson, P. I. & Brunak, S., 2023, In: eLife. 12, 17 p., e83116.

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