Urmo Võsa

2024

Identification of rare disease genes as drivers of common diseases through tissue-specific gene regulatory networks

Bakker, O. B., Claringbould, A., Westra, H. J., Wiersma, H., Boulogne, F., Võsa, U., Urzúa-Traslaviña, C. G., Mulcahy Symmons, S., Zidan, M. M. M., Sadler, M. C., Kutalik, Z., Jonkers, I. H., Franke, L. & Deelen, P., Dec-2024, In: Scientific Reports. 14, 13 p., 30206.

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SMIM1 absence is associated with reduced energy expenditure and excess weight

DBDS Genetic Consortium, MAGIC, Stefanucci, L., Moslemi, C., Tomé, A. R., Virtue, S., Bidault, G., Gleadall, N. S., Watson, L. P. E., Kwa, J. E., Burden, F. & Farrow, S., 13-Sept-2024, In: Med. 5, 9, p. 1083-1095 13 p.

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2 Citations (Scopus)

19 Downloads (Pure)

2023

OTTERS: a powerful TWAS framework leveraging summary-level reference data

eQTLgen Consortium, Dai, Q., Zhou, G., Zhao, H., Võsa, U., Franke, L., Battle, A., Teumer, A., Lehtimäki, T., Raitakari, O. T., Esko, T., Epstein, M. P. & Yang, J., Dec-2023, In: Nature Communications. 14, 13 p., 1271.

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16 Citations (Scopus)

118 Downloads (Pure)

2022

Genetic analysis of over half a million people characterises C-reactive protein loci

Said, S., Pazoki, R., Karhunen, V., Võsa, U., Ligthart, S., Bodinier, B., Koskeridis, F., Welsh, P., Alizadeh, B. Z., Chasman, D. I., Sattar, N., Chadeau-Hyam, M., Evangelou, E., Jarvelin, M.-R., Elliott, P., Tzoulaki, I. & Dehghan, A., 22-Apr-2022, In: Nature Communications. 13, 1, 10 p., 2198.

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79 Citations (Scopus)

66 Downloads (Pure)

Omics-informed CNV calls reduce false-positive rates and improve power for CNV-trait associations

Estonian Biobank Research Team, Lepamets, M., Auwerx, C., Nõukas, M., Claringbould, A., Porcu, E., Kals, M., Jürgenson, T., Morris, A. P., Võsa, U., Bochud, M., Stringhini, S., Wijmenga, C., Franke, L., Peterson, H., Vilo, J., Lepik, K., Mägi, R. & Kutalik, Z., 13-Oct-2022, In: Human Genetics and Genomics Advances. 3, 4, 12 p., 100133.

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5 Citations (Scopus)

137 Downloads (Pure)

2021

Large-scale association analyses identify host factors influencing human gut microbiome composition

MiBioGen Consortium Initiative, Kurilshikov, A., Medina-Gomez, C., Bacigalupe, R., Radjabzadeh, D., Wang, J., Demirkan, A., Le Roy, C. I., Raygoza Garay, J. A., Finnicum, C. T., Liu, X., Zhernakova, D. V., Bonder, M. J., Hansen, T. H., Frost, F., Ruehlemann, M. C., Turpin, W., Moon, J.-Y., Kim, H.-N. & Lull, K. & 31 others, Barkan, E., Shah, S. A., Fornage, M., Szopinska-Tokov, J., Wallen, Z. D., Borisevich, D., Agreus, L., Andreasson, A., Bang, C., Bedrani, L., Bell, J. T., Bisgaard, H., Boehnke, M., Boomsma, D. I., Burk, R. D., Claringbould, A., Croitoru, K., Davies, G. E., van Duijn, C. M., Duijts, L., Falony, G., Fu, J., van der Graaf, A., Hansen, T., Vosa, U., Westra, H.-J., Wijmenga, C., Lerch, M. M., Franke, L., Sanna, S. & Zhernakova, A., 18-Jan-2021, In: Nature Genetics. 53, p. 156-165 19 p.

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1032 Citations (Scopus)

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Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression

BIOS Consortium, i2QTL Consortium, Võsa, U., Claringbould, A., Westra, H.-J., Bonder, M. J., Deelen, P., Zeng, B., Kirsten, H., Saha, A., Kreuzhuber, R., Yazar, S., Brugge, H., Oelen, R., de Vries, D. H., van der Wijst, M. G. P., Kasela, S., Pervjakova, N., Alves, I. & Fave, M.-J. & 32 others, Agbessi, M., Christiansen, M. W., Jansen, R., Seppala, I., Tong, L., Teumer, A., Schramm, K., Hemani, G., Verlouw, J., Yaghootkar, H., Flitman, R. S., Brown, A., Kukushkina, V., Kalnapenkis, A., Rueger, S., Porcu, E., Kronberg, J., Kettunen, J., Lee, B., Zhang, F., Qi, T., Hernandez, J. A., Arindrarto, W., Beutner, F., Dmitrieva, J., Li, S., Penninx, B. W. J. H., Veldink, J. H., Warmerdam, R., Wijmenga, C., Swertz, M. & Franke, L., Sept-2021, In: Nature Genetics. 53, 9, p. 1300-1310 11 p.

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810 Citations (Scopus)

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Systematic Prioritization of Candidate Genes in Disease Loci Identifies TRAFD1 as a Master Regulator of IFN gamma Signaling in Celiac Disease

BIOS Consortium, van der Graaf, A., Zorro, M. M., Claringbould, A., Vosa, U., Aguirre-Gamboa, R., Li, C., Mooiweer, J., Ricano-Ponce, I., Borek, Z., Koning, F., Kooy-Winkelaar, Y., Sollid, L. M., Qiao, S.-W., Kumar, V., Li, Y., Franke, L., Withoff, S., Wijmenga, C. & Sanna, S. & 1 others, Jonkers, I., 25-Jan-2021, In: Frontiers in Genetics. 11, p. 562434 16 p., 562434.

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24 Citations (Scopus)

159 Downloads (Pure)

2020

Deconvolution of bulk blood eQTL effects into immune cell subpopulations

BIOS Consortium, Aguirre-Gamboa, R., de Klein, N., di Tommaso, J., Claringbould, A., van der Wijst, M. G. P., de Vries, D., Brugge, H., Oelen, R., Vosa, U., Zorro, M. M., Chu, X., Bakker, O. B., Borek, Z., Ricano-Ponce, I., Deelen, P., Xu, C.-J., Swertz, M., Jonkers, I. & Withoff, S. & 9 others, Joosten, I., Sanna, S., Kumar, V., Koenen, H. J. P. M., Joosten, L. A. B., Netea, M. G., Wijmenga, C., Franke, L. & Li, Y., 12-Jun-2020, In: Bmc Bioinformatics. 21, 1, 23 p., 243.

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33 Citations (Scopus)

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Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals

Folkersen, L., Gustafsson, S., Wang, Q., Hansen, D. H., Hedman, Å. K., Schork, A., Page, K., Zhernakova, D. V., Wu, Y., Peters, J., Eriksson, N., Bergen, S. E., Boutin, T. S., Bretherick, A. D., Enroth, S., Kalnapenkis, A., Gådin, J. R., Suur, B. E., Chen, Y. & Matic, L. & 63 others, Gale, J. D., Lee, J., Zhang, W., Quazi, A., Ala-Korpela, M., Choi, S. H., Claringbould, A., Danesh, J., Davey Smith, G., de Masi, F., Elmståhl, S., Engström, G., Fauman, E., Fernandez, C., Franke, L., Franks, P. W., Giedraitis, V., Haley, C., Hamsten, A., Ingason, A., Johansson, Å., Joshi, P. K., Lind, L., Lindgren, C. M., Lubitz, S., Palmer, T., Macdonald-Dunlop, E., Magnusson, M., Melander, O., Michaelsson, K., Morris, A. P., Mägi, R., Nagle, M. W., Nilsson, P. M., Nilsson, J., Orho-Melander, M., Polasek, O., Prins, B., Pålsson, E., Qi, T., Sjögren, M., Sundström, J., Surendran, P., Võsa, U., Werge, T., Wernersson, R., Westra, H.-J., Yang, J., Zhernakova, A., Ärnlöv, J., Fu, J., Smith, J. G., Esko, T., Hayward, C., Gyllensten, U., Landen, M., Siegbahn, A., Wilson, J. F., Wallentin, L., Butterworth, A. S., Holmes, M. V., Ingelsson, E. & Mälarstig, A., 16-Oct-2020, In: Nature Metabolism. 2, 10, p. 1135-1148 14 p.

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380 Citations (Scopus)

1224 Downloads (Pure)

2019

Comprehensive Multiple eQTL Detection and Its Application to GWAS Interpretation

Zeng, B., Lloyd-Jones, L. R., Montgomery, G. W., Metspalu, A., Esko, T., Franke, L., Vosa, U., Claringbould, A., Brigham, K. L., Quyyumi, A. A., Idaghdour, Y., Yang, J., Visscher, P. M., Powell, J. E. & Gibson, G., Jul-2019, In: Genetics. 212, 3, p. 905-918 14 p.

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20 Citations (Scopus)

65 Downloads (Pure)

Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences

23and Me Res Team, eQTLgen Consortium, Int Cannabis Consortium & Soc Sci Genetic Association Con, Feb-2019, In: Nature Genetics. 51, 2, p. 245-257 16 p.

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425 Citations (Scopus)

Genomics of 1 million parent lifespans implicates novel pathways and common diseases and distinguishes survival chances

eQTLgen Consortium, Timmers, P. R., Mounier, N., Lall, K., Fischer, K., Ning, Z., Feng, X., Bretherick, A. D. & Clark, D. W., 15-Jan-2019, In: eLife. 8, 40 p., 39856.

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161 Citations (Scopus)

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High-throughput identification of human SNPs affecting regulatory element activity

van Arensbergen, J., Pagie, L., FitzPatrick, V. D., de Haas, M., Baltissen, M. P., Comoglio, F., van der Weide, R. H., Teunissen, H., Vosa, U., Franke, L., de Wit, E., Vermeulen, M., Bussemaker, H. J. & van Steensel, B., Jul-2019, In: Nature Genetics. 51, 7, p. 1160–1169 13 p.

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127 Citations (Scopus)

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Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits

Porcu, E., Rueger, S., Lepik, K., eQTLgen Consortium & BIOS Consortium, 24-Jul-2019, In: Nature Communications. 10, 12 p., 3300.

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177 Citations (Scopus)

466 Downloads (Pure)

The metabolic network coherence of human transcriptomes is associated with genetic variation at the cadherin 18 locus

BIOS Consortium, KORA Study Grp, Schlicht, K., Nyczka, P., Caliebe, A., Freitag-Wolf, S., Claringbould, A., Franke, L., Vosa, U., Kardia, S. L. R., Smith, J. A., Zhao, W., Gieger, C., Peters, A., Prokisch, H., Strauch, K., Baurecht, H., Weidinger, S., Rosenstiel, P. & Huett, M.-T. & 3 others, Knecht, C., Szymczak, S. & Krawczak, M., Apr-2019, In: HUMAN GENETICS. 138, 4, p. 375-388 14 p.

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4 Citations (Scopus)

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2018

Gene co-expression analysis for functional classification and gene-disease predictions

van Dam, S., Võsa, U., van der Graaf, A., Franke, L. & de Magalhães, J. P., Jul-2018, In: Briefings in Bioinformatics. 19, 4, p. 575-592 18 p.

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688 Citations (Scopus)

850 Downloads (Pure)

Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders

Lifelines Cohort Study, Ligthart, S., Vaez, A., Võsa, U., Stathopoulou, M. G., de Vries, P. S., Prins, B. P., Van der Most, P. J., Tanaka, T., Naderi, E., Rose, L. M., Wu, Y., Karlsson, R., Barbalic, M., Lin, H., Pool, R., Zhu, G., Macé, A., Sidore, C. & Trompet, S. & 16 others, Mangino, M., Sabater-Lleal, M., Kemp, J. P., Abbasi, A., Kacprowski, T., Verweij, N., Smith, A. V., Huang, T., Marzi, C., Feitosa, M. F., Lohman, K. K., Kleber, M. E., Milaneschi, Y., Huq, M., Zhao, J. H. & Amini, M., 1-Nov-2018, In: American Journal of Human Genetics. 103, 5, p. 691-706 16 p.

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294 Citations (Scopus)

42 Downloads (Pure)

Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes

eQTLgen Consortium, Xue, A., Wu, Y., Zhu, Z., Zhang, F., Kemper, K. E., Zheng, Z., Yengo, L., Lloyd-Jones, L. R., Sidorenko, J., Wu, Y., McRae, A. F., Visscher, P. M., Zeng, J. & Yang, J., 27-Jul-2018, In: Nature Communications. 9, 1, 14 p., 2941.

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559 Citations (Scopus)

37 Downloads (Pure)

Identifying gene targets for brain-related traits using transcriptomic and methylomic data from blood

eQTLgen Consortium, Qi, T., Wu, Y., Zeng, J., Zhang, F., Xue, A., Jiang, L., Zhu, Z., Kemper, K., Yengo, L., Zheng, Z. & Visscher, P. M., 1-Dec-2018, In: Nature Communications. 9, 1, 12 p., 2282.

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234 Citations (Scopus)

17 Downloads (Pure)

Individual variations in cardiovascular-disease-related protein levels are driven by genetics and gut microbiome

Lifelines Cohort Study, Nov-2018, In: Nature Genetics. 50, 11, p. 1524-+ 12 p.

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76 Citations (Scopus)

Integration of multi-omics data and deep phenotyping enables prediction of cytokine responses

Bakker, O. B., Aguirre-Gamboa, R., Sanna, S., Oosting, M., Smeekens, S. P., Jaeger, M., Zorro, M., Vosa, U., Withoff, S., Netea-Maier, R. T., Koenen, H. J. P. M., Joosten, I., Xavier, R. J., Franke, L., Joosten, L. A. B., Kumar, V., Wijmenga, C., Netea, M. G. & Li, Y., Jul-2018, In: Nature Immunology. 19, 7, p. 776-786 16 p.

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92 Citations (Scopus)

2017

Endothelial TLR4 and the microbiome drive cerebral cavernous malformations

Tang, A. T., Hoi, J. P. C., Kotzin, J. J., Yang, Y., Hong, C. C., Hobson, N., Girard, R., Zeineddine, H. A., Lightle, R., Moore, T., Cao, Y., Shenkar, R., Chen, M., Mericko, P., Yang, J., Li, L., Tanes, C., Kobuley, D., Vosa, U. & Whitehead, K. J. & 10 others, Li, D. Y., Franke, L., Hart, B., Schwaninger, M., Henao-Mejia, J., Morrison, L., Kim, H., Awad, I. A., Zheng, X. & Kahn, M. L., 18-May-2017, In: Nature. 545, 7654, p. 305-310 20 p.

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233 Citations (Scopus)

2016

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

van Rheenen, W., Shatunov, A., Dekker, A. M., McLaughlin, R. L., Diekstra, F. P., Pulit, S. L., van der Spek, R. A. A., Vosa, U., de Jong, S., Robinson, M. R., Yang, J., Fogh, I., van Doormaal, P. T. C., Tazelaar, G. H. P., Koppers, M., Blokhuis, A. M., Sproviero, W., Jones, A. R., Kenna, K. P. & van Eijk, K. R. & 36 others, Harschnitz, O., Schellevis, R. D., Brands, W. J., Medic, J., Menelaou, A., Vajda, A., Ticozzi, N., Lin, K., Rogelj, B., Vrabec, K., Ravnik-Glavac, M., Koritnik, B., Zidar, J., Leonardis, L., Groselj, L. D., Millecamps, S., Salachas, F., Meininger, V., de Carvalho, M., Pinto, S., Mora, J. S., Rojas-Garcia, R., Polak, M., Chandran, S., Colville, S., Swingler, R., Morrison, K. E., Shaw, P. J., Hardy, J., Franke, L., PARALS Registry, SLALOM Grp, SLAP Registry, FALS Sequencing Consortium, SLAGEN Consortium & NNIPPS Study Grp, Sept-2016, In: Nature Genetics. 48, 9, p. 1043-1050 8 p.

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418 Citations (Scopus)

2013

Human Disease-Associated Genetic Variation Impacts Large Intergenic Non-Coding RNA Expression

Kumar, V., Westra, H.-J., Karjalainen, J., Zhernakova, D. V., Esko, T., Hrdlickova, B., Almeida, R., Zhernakova, A., Reinmaa, E., Hofker, M. H., Fehrmann, R. S. N., Fu, J., Withoff, S., Metspalu, A., Franke, L., Wijmenga, C. & Vosa, U., Jan-2013, In: PLoS genetics. 9, 1, 9 p., e1003201.

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231 Citations (Scopus)

344 Downloads (Pure)

Urmo Võsa

Research output

Search results