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A geographically matched control population efficiently limits the number of candidate disease-causing variants in an unbiased whole-genome analysis.
Rentoft M, Svensson D, Sjödin A, Olason PI, Sjöström O, Nylander C, Osterman P, Sjögren R, Netotea S, Wibom C, Cederquist K, Chabes A, Trygg J, Melin BS, Johansson E. Rentoft M, et al. Among authors: olason pi. PLoS One. 2019 Mar 27;14(3):e0213350. doi: 10.1371/journal.pone.0213350. eCollection 2019. PLoS One. 2019. PMID: 30917156 Free PMC article.
SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population.
Ameur A, Dahlberg J, Olason P, Vezzi F, Karlsson R, Martin M, Viklund J, Kähäri AK, Lundin P, Che H, Thutkawkorapin J, Eisfeldt J, Lampa S, Dahlberg M, Hagberg J, Jareborg N, Liljedahl U, Jonasson I, Johansson Å, Feuk L, Lundeberg J, Syvänen AC, Lundin S, Nilsson D, Nystedt B, Magnusson PK, Gyllensten U. Ameur A, et al. Eur J Hum Genet. 2017 Nov;25(11):1253-1260. doi: 10.1038/ejhg.2017.130. Epub 2017 Aug 23. Eur J Hum Genet. 2017. PMID: 28832569 Free PMC article.
The sequences of 150,119 genomes in the UK Biobank.
Halldorsson BV, Eggertsson HP, Moore KHS, Hauswedell H, Eiriksson O, Ulfarsson MO, Palsson G, Hardarson MT, Oddsson A, Jensson BO, Kristmundsdottir S, Sigurpalsdottir BD, Stefansson OA, Beyter D, Holley G, Tragante V, Gylfason A, Olason PI, Zink F, Asgeirsdottir M, Sverrisson ST, Sigurdsson B, Gudjonsson SA, Sigurdsson GT, Halldorsson GH, Sveinbjornsson G, Norland K, Styrkarsdottir U, Magnusdottir DN, Snorradottir S, Kristinsson K, Sobech E, Jonsson H, Geirsson AJ, Olafsson I, Jonsson P, Pedersen OB, Erikstrup C, Brunak S, Ostrowski SR; DBDS Genetic Consortium; Thorleifsson G, Jonsson F, Melsted P, Jonsdottir I, Rafnar T, Holm H, Stefansson H, Saemundsdottir J, Gudbjartsson DF, Magnusson OT, Masson G, Thorsteinsdottir U, Helgason A, Jonsson H, Sulem P, Stefansson K. Halldorsson BV, et al. Among authors: olason pi. Nature. 2022 Jul;607(7920):732-740. doi: 10.1038/s41586-022-04965-x. Epub 2022 Jul 20. Nature. 2022. PMID: 35859178 Free PMC article.
Multiomics analysis of rheumatoid arthritis yields sequence variants that have large effects on risk of the seropositive subset.
Saevarsdottir S, Stefansdottir L, Sulem P, Thorleifsson G, Ferkingstad E, Rutsdottir G, Glintborg B, Westerlind H, Grondal G, Loft IC, Sorensen SB, Lie BA, Brink M, Ärlestig L, Arnthorsson AO, Baecklund E, Banasik K, Bank S, Bjorkman LI, Ellingsen T, Erikstrup C, Frei O, Gjertsson I, Gudbjartsson DF, Gudjonsson SA, Halldorsson GH, Hendricks O, Hillert J, Hogdall E, Jacobsen S, Jensen DV, Jonsson H, Kastbom A, Kockum I, Kristensen S, Kristjansdottir H, Larsen MH, Linauskas A, Hauge EM, Loft AG, Ludviksson BR, Lund SH, Markusson T, Masson G, Melsted P, Moore KHS, Munk H, Nielsen KR, Norddahl GL, Oddsson A, Olafsdottir TA, Olason PI, Olsson T, Ostrowski SR, Hørslev-Petersen K, Rognvaldsson S, Sanner H, Silberberg GN, Stefansson H, Sørensen E, Sørensen IJ, Turesson C, Bergman T, Alfredsson L, Kvien TK, Brunak S, Steinsson K, Andersen V, Andreassen OA, Rantapää-Dahlqvist S, Hetland ML, Klareskog L, Askling J, Padyukov L, Pedersen OB, Thorsteinsdottir U, Jonsdottir I, Stefansson K; Members of the DBDS Genomic Consortium; Danish RA Genetics Working Group; Swedish Rheumatology Quality Register Biobank Study Group (SRQb). Saevarsdottir S, et al. Among authors: olason pi. Ann Rheum Dis. 2022 Aug;81(8):1085-1095. doi: 10.1136/annrheumdis-2021-221754. Epub 2022 Apr 25. Ann Rheum Dis. 2022. PMID: 35470158 Free PMC article.
Expanding the range of ZNF804A variants conferring risk of psychosis.
Steinberg S, Mors O, Børglum AD, Gustafsson O, Werge T, Mortensen PB, Andreassen OA, Sigurdsson E, Thorgeirsson TE, Böttcher Y, Olason P, Ophoff RA, Cichon S, Gudjonsdottir IH, Pietiläinen OP, Nyegaard M, Tuulio-Henriksson A, Ingason A, Hansen T, Athanasiu L, Suvisaari J, Lonnqvist J, Paunio T, Hartmann A, Jürgens G, Nordentoft M, Hougaard D, Norgaard-Pedersen B, Breuer R, Möller HJ, Giegling I, Glenthøj B, Rasmussen HB, Mattheisen M, Bitter I, Réthelyi JM, Sigmundsson T, Fossdal R, Thorsteinsdottir U, Ruggeri M, Tosato S, Strengman E; Genetic Risk and Outcome in Psychosis; Kiemeney LA, Melle I, Djurovic S, Abramova L, Kaleda V, Walshe M, Bramon E, Vassos E, Li T, Fraser G, Walker N, Toulopoulou T, Yoon J, Freimer NB, Cantor RM, Murray R, Kong A, Golimbet V, Jönsson EG, Terenius L, Agartz I, Petursson H, Nöthen MM, Rietschel M, Peltonen L, Rujescu D, Collier DA, Stefansson H, St Clair D, Stefansson K. Steinberg S, et al. Mol Psychiatry. 2011 Jan;16(1):59-66. doi: 10.1038/mp.2009.149. Epub 2010 Jan 5. Mol Psychiatry. 2011. PMID: 20048749 Free PMC article.
Loss-of-Function Variants in the Tumor-Suppressor Gene PTPN14 Confer Increased Cancer Risk.
Olafsdottir T, Stacey SN, Sveinbjornsson G, Thorleifsson G, Norland K, Sigurgeirsson B, Thorisdottir K, Kristjansson AK, Tryggvadottir L, Sarin KY, Benediktsson R, Jonasson JG, Sigurdsson A, Jonasdottir A, Kristmundsdottir S, Jonsson H, Gylfason A, Oddsson A, Fridriksdottir R, Gudjonsson SA, Zink F, Lund SH, Rognvaldsson S, Melsted P, Steinthorsdottir V, Gudmundsson J, Mikaelsdottir E, Olason PI, Stefansdottir L, Eggertsson HP, Halldorsson BV, Thorsteinsdottir U, Agustsson TT, Olafsson K, Olafsson JH, Sulem P, Rafnar T, Gudbjartsson DF, Stefansson K. Olafsdottir T, et al. Among authors: olason pi. Cancer Res. 2021 Apr 15;81(8):1954-1964. doi: 10.1158/0008-5472.CAN-20-3065. Epub 2021 Feb 18. Cancer Res. 2021. PMID: 33602785
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