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Page 1
A comparison of methods for detecting DNA methylation from long-read sequencing of human genomes.
Sigurpalsdottir BD, Stefansson OA, Holley G, Beyter D, Zink F, Hardarson MÞ, Sverrisson SÞ, Kristinsdottir N, Magnusdottir DN, Magnusson OÞ, Gudbjartsson DF, Halldorsson BV, Stefansson K. Sigurpalsdottir BD, et al. Among authors: sverrisson sth. Genome Biol. 2024 Mar 11;25(1):69. doi: 10.1186/s13059-024-03207-9. Genome Biol. 2024. PMID: 38468278 Free PMC article.
Sequence variants in the RNF212 gene associate with genome-wide recombination rate.
Kong A, Thorleifsson G, Stefansson H, Masson G, Helgason A, Gudbjartsson DF, Jonsdottir GM, Gudjonsson SA, Sverrisson S, Thorlacius T, Jonasdottir A, Hardarson GA, Palsson ST, Frigge ML, Gulcher JR, Thorsteinsdottir U, Stefansson K. Kong A, et al. Science. 2008 Mar 7;319(5868):1398-401. doi: 10.1126/science.1152422. Epub 2008 Jan 31. Science. 2008. PMID: 18239089
Parental origin of sequence variants associated with complex diseases.
Kong A, Steinthorsdottir V, Masson G, Thorleifsson G, Sulem P, Besenbacher S, Jonasdottir A, Sigurdsson A, Kristinsson KT, Jonasdottir A, Frigge ML, Gylfason A, Olason PI, Gudjonsson SA, Sverrisson S, Stacey SN, Sigurgeirsson B, Benediktsdottir KR, Sigurdsson H, Jonsson T, Benediktsson R, Olafsson JH, Johannsson OT, Hreidarsson AB, Sigurdsson G; DIAGRAM Consortium; Ferguson-Smith AC, Gudbjartsson DF, Thorsteinsdottir U, Stefansson K. Kong A, et al. Nature. 2009 Dec 17;462(7275):868-74. doi: 10.1038/nature08625. Nature. 2009. PMID: 20016592 Free PMC article.
Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits.
Beyter D, Ingimundardottir H, Oddsson A, Eggertsson HP, Bjornsson E, Jonsson H, Atlason BA, Kristmundsdottir S, Mehringer S, Hardarson MT, Gudjonsson SA, Magnusdottir DN, Jonasdottir A, Jonasdottir A, Kristjansson RP, Sverrisson ST, Holley G, Palsson G, Stefansson OA, Eyjolfsson G, Olafsson I, Sigurdardottir O, Torfason B, Masson G, Helgason A, Thorsteinsdottir U, Holm H, Gudbjartsson DF, Sulem P, Magnusson OT, Halldorsson BV, Stefansson K. Beyter D, et al. Nat Genet. 2021 Jun;53(6):779-786. doi: 10.1038/s41588-021-00865-4. Epub 2021 May 10. Nat Genet. 2021. PMID: 33972781
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. 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.
The correlation between CpG methylation and gene expression is driven by sequence variants.
Stefansson OA, Sigurpalsdottir BD, Rognvaldsson S, Halldorsson GH, Juliusson K, Sveinbjornsson G, Gunnarsson B, Beyter D, Jonsson H, Gudjonsson SA, Olafsdottir TA, Saevarsdottir S, Magnusson MK, Lund SH, Tragante V, Oddsson A, Hardarson MT, Eggertsson HP, Gudmundsson RL, Sverrisson S, Frigge ML, Zink F, Holm H, Stefansson H, Rafnar T, Jonsdottir I, Sulem P, Helgason A, Gudbjartsson DF, Halldorsson BV, Thorsteinsdottir U, Stefansson K. Stefansson OA, et al. Nat Genet. 2024 Aug;56(8):1624-1631. doi: 10.1038/s41588-024-01851-2. Epub 2024 Jul 24. Nat Genet. 2024. PMID: 39048797 Free PMC article.