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Browsing by Subject "Genetic Predisposition to Disease/genetics"

Browsing by Subject "Genetic Predisposition to Disease/genetics"

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    Mapping genomic loci implicates genes and synaptic biology in schizophrenia 
    Indonesia Schizophrenia Consortium; Sigurðsson, Engilbert (2022-04-08)
    Schizophrenia has a heritability of 60-80%1, much of which is attributable to common risk alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with schizophrenia and 243,649 control individuals, we report common variant ...
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    Multiomics analysis of rheumatoid arthritis yields sequence variants that have large effects on risk of the seropositive subset 
    Sævarsdóttir, Sædís; Stefansdottir, Lilja; Sulem, P.; Thorleifsson, G.; Ferkingstad, E.; Rutsdottir, G.; Glintborg, B.; Westerlind, H.; Gröndal, Gerður María; Loft, I.C.; Sorensen, S.B.; Lie, B.A.; Brink, M.; Arlestig, L.; Arnthorsson, A.O.; Baecklund, E.; Banasik, K.; Bank, S.; Bjorkman, L.I.; Ellingsen, T.; Erikstrup, C.; Frei, O.; Gjertsson, I.; Gudbjartsson, D.F.; Gudjonsson, S.A.; Halldorsson, G.H.; Hendricks, O.; Hillert, J.; Hogdall, E.; Jacobsen, Sø; Jensen, D.V.; Jonsson, Helgi; Kastbom, A.; Kockum, I.; Kristensen, S.; Kristjansdottir, Helga; Larsen, M.H.; Linauskas, A.; Hauge, E.-M.; Loft, A.G.; Lúðvíksson, Björn Rúnar; Lund, S.H.; Markusson, Þorsteinn; Masson, G.; Melsted, P.; Moore, K.H.S.; Munk, H.; Nielsen, K.R.; Norddahl, G.L.; Oddsson, A.; Olafsdottir, T.A.; Olason, P.I.; Olsson, T.; Ostrowski, S.R.; Hørslev-Petersen, K.; Rognvaldsson, S.; Sanner, H.; Silberberg, G.N.; Stefansson, H.; Sørensen, E.; Sørensen, I.J.; Turesson, C.; Bergman, T.; Alfredsson, L.; Kvien, T.K.; Brunak, Sø; Steinsson, K.; Andersen, V.; Andreassen, O.A.; Rantapää-Dahlqvist, S.; Hetland, M.L.; Klareskog, L.; Askling, J.; Padyukov, L.; Pedersen, O.B.V.; Thorsteinsdottir, U.; Jonsdottir, I.; Stefánsson, Kári (2022-04-25)
    Objectives To find causal genes for rheumatoid arthritis (RA) and its seropositive (RF and/or ACPA positive) and seronegative subsets. Methods We performed a genome-wide association study (GWAS) of 31 313 RA cases (68% seropositive) and ∼1 million ...
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    Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene 
    Árnadóttir, Guðný Anna; Oddsson, Asmundur; Jensson, Brynjar O.; Gisladottir, Svanborg; Simon, Mariella T.; Arnthorsson, Asgeir O.; Katrinardottir, Hildigunnur; Fridriksdottir, Run; Ivarsdottir, Erna V.; Jonasdottir, Adalbjorg; Jonasdottir, Aslaug; Barrick, Rebekah; Saemundsdottir, Jona; le Roux, Louise; Oskarsson, Gudjon R.; Ásmundsson, Jurate; Steffensen, Þóra Steinunn; Gudmundsson, Kjartan R.; Ludvigsson, Petur; Jonsson, Jon J.; Masson, Gisli; Jonsdottir, Ingileif; Holm, Hilma; Jonasson, Jon G.; Magnusson, Olafur Th; Thorarensen, Olafur; Abdenur, Jose; Norddahl, Gudmundur L.; Gudbjartsson, Daniel F.; Bjornsson, Hans T.; Þorsteinsdóttir, Unnur; Sulem, Patrick; Stefánsson, Kári (2022-02-04)
    Predicting the pathogenicity of biallelic missense variants can be challenging. Here, we use a deficit of observed homozygous carriers of missense variants, versus an expected number in a set of 153,054 chip-genotyped Icelanders, to identify potentially ...
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    Stroke genetics informs drug discovery and risk prediction across ancestries 
    PRECISEQ Consortium; FinnGen Consortium; NINDS Stroke Genetics Network (SiGN); MEGASTROKE Consortium; SIREN Consortium; China Kadoorie Biobank Collaborative Group; VA Million Veteran Program; International Stroke Genetics Consortium (ISGC); Biobank Japan; CHARGE consortium.; GIGASTROKE Consortium; COMPASS Consortium; INVENT Consortium; Dutch Parelsnoer Initiative (PSI) Cerebrovascular Disease Study Group; Estonian Biobank (2022-09-30)
    Previous genome-wide association studies (GWASs) of stroke - the second leading cause of death worldwide - were conducted predominantly in populations of European ancestry1,2. Here, in cross-ancestry GWAS meta-analyses of 110,182 patients who have had ...