- Published
Identification and assembly of genomes and genetic elements in complex metagenomic samples without using reference genomes
Nielsen, H. B., Almeida, M., Juncker, A., Rasmussen, S., Li, J., Sunagawa, S., Plichta, D. R., Gautier, L., Pedersen, A. G., Le Chatelier, E., Pelletier, E., Bonde, I., Nielsen, T., Manichanh, C., Arumugam, M., Batto, J-M., dos Santos, M. B. Q., Blom, N., Borruel, N., Burgdorf, K. S. & 31 others, , 2014, In: Nature Biotechnology. 32, 8, p. 822–828 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Identification of Mislabeled Samples and Sample Mix-ups in Genotype Data using Barcode Genotypes
Have, C. T., Appel, E. V. R., Grarup, Niels, Hansen, Torben & Bork-Jensen, J., 2014, In: International Journal of Bioscience, Biochemistry and Bioinformatics. 4, 5, p. 355-360 5 p., 370.Research output: Contribution to journal › Journal article › Research › peer-review
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Identification of four amino acid substitutions in hexokinase II and studies of relationships to NIDDM, glucose effectiveness, and insulin sensitivity
Echwald, S. M., Bjørbaek, C., Hansen, Torben, Clausen, J. O., drb459, drb459, Zierath, Juleen R, Printz, R. L., Granner, D. K. & Pedersen, Oluf Borbye, Mar 1995, In: Diabetes. 44, 3, p. 347-53 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Identification of genetic variants associated with a wide spectrum of phenotypes clinically diagnosed as Sanfilippo and Morquio syndromes using whole genome sequencing
Gul, Rutaba, Firasat, S., Schubert, Mikkel, Ullah, A., Peña Lozano, Elionora, Thuesen, Anne Cathrine Baun, Gjesing, A. P., Hussain, M., Tufail, M., Saqib, M., Afshan, K. & Hansen, Torben, 2023, In: Frontiers in Genetics. 14, 14 p., 1254909.Research output: Contribution to journal › Journal article › Research › peer-review
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Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes
Steinthorsdottir, V., Thorleifsson, G., Sulem, P., Helgason, H., Grarup, N., Sigurdsson, A., Helgadottir, H. T., Johannsdottir, H., Magnusson, O. T., Gudjonsson, S. A., Justesen, J. M., Harder, M. N., Jørgensen, M. E., Christensen, C., Brandslund, I., Sandbæk, A., Lauritzen, T., Vestergaard, H., Linneberg, A., Jørgensen, T. & 14 others, , 26 Jan 2014, In: Nature Genetics. 46, 3, p. 294-300 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Identification of novel LEPR mutations in Pakistani families with morbid childhood obesity
Niazi, R. K., Gjesing, A. P., Hollensted, M., Have, C. T., Grarup, Niels, Pedersen, Oluf Borbye, Ullah, A., Shahid, G., Ahmad, W., Gul, A. & Hansen, Torben, 2018, In: BMC Medical Genetics. 19, 1, p. 1-8 199.Research output: Contribution to journal › Journal article › Research › peer-review
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Identification of novel genetic determinants of erythrocyte membrane fatty acid composition among Greenlanders
Lepola, Mette Andersen, Jørsboe, E., Sandholt, C. H., Grarup, Niels, Jørgensen, M. E., Færgeman, N. J., Bjerregaard, P., Pedersen, Oluf Borbye, Moltke, Ida, Hansen, Torben & Albrechtsen, Anders, 2016, In: P L o S Genetics. 12, 6, 19 p., e1006119.Research output: Contribution to journal › Journal article › Research › peer-review
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Identification of novel high-impact recessively inherited type 2 diabetes risk variants in the Greenlandic population
Grarup, Niels, Moltke, Ida, Lepola, Mette Andersen, Bjerregaard, P., Larsen, C. V. L., Dahl-Petersen, I. K., Jørsboe, E., Tiwari, H. K., Hopkins, S. E., Wiener, H. W., Boyer, B. B., Linneberg, Allan René, Pedersen, Oluf Borbye, Jørgensen, M. E., Albrechtsen, Anders & Hansen, Torben, 1 Sep 2018, In: Diabetologia. 61, 9, p. 2005–2015Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia
Akbar, W., Ullah, A., Haider, N., Suleman, Sufyan, Khan, F. U., Shah, A. A., Sikandar, M. A., Basit, S. & Ahmad, W., 2024, In: Journal of Gene Medicine. 26, 1, 10 p., e3601.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Identification of pathogenic GCK variants in patients with common type 2 diabetes can lead to discontinuation of pharmacological treatment
Thuesen, Anne Cathrine Baun, Jensen, Rasmus Tanderup, Maagensen, H., Kristiansen, M. R., Sørensen, H. T., Vaag, Allan, Beck-Nielsen, H., Pedersen, Oluf Borbye, Grarup, Niels, Nielsen, J. S., Rungby, Jørgen, Gjesing, A. P., Storgaard, H., Vilsbøll, Tina & Hansen, Torben, 2023, In: Molecular Genetics and Metabolism Reports. 35, 8 p., 100972.Research output: Contribution to journal › Journal article › Research › peer-review
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Natural selection affects multiple aspects of genetic variation at putatively peutral sites across the human genome
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Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets
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Estimation of allele frequency and association mapping using next-generation sequencing data
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