DIKUL - logo

Search results

Basic search    Expert search   

Currently you are NOT authorised to access e-resources UL. For full access, REGISTER.

1 2 3 4 5
hits: 52
1.
  • High trans-ethnic replicabi... High trans-ethnic replicability of GWAS results implies common causal variants
    Marigorta, Urko M; Navarro, Arcadi PLOS genetics, 06/2013, Volume: 9, Issue: 6
    Journal Article
    Peer reviewed
    Open access

    Genome-wide association studies (GWAS) have detected many disease associations. However, the reported variants tend to explain small fractions of risk, and there are doubts about issues such as the ...
Full text
Available for: UL

PDF
2.
  • Replicability and Predictio... Replicability and Prediction: Lessons and Challenges from GWAS
    Marigorta, Urko M.; Rodríguez, Juan Antonio; Gibson, Greg ... Trends in genetics, 07/2018, Volume: 34, Issue: 7
    Journal Article
    Peer reviewed
    Open access

    Since the publication of the Wellcome Trust Case Control Consortium (WTCCC) landmark study a decade ago, genome-wide association studies (GWAS) have led to the discovery of thousands of risk variants ...
Full text
Available for: UL

PDF
3.
  • Distinct Effector B Cells I... Distinct Effector B Cells Induced by Unregulated Toll-like Receptor 7 Contribute to Pathogenic Responses in Systemic Lupus Erythematosus
    Jenks, Scott A.; Cashman, Kevin S.; Zumaquero, Esther ... Immunity, 10/2018, Volume: 49, Issue: 4
    Journal Article
    Peer reviewed
    Open access

    Systemic Lupus Erythematosus (SLE) is characterized by B cells lacking IgD and CD27 (double negative; DN). We show that DN cell expansions reflected a subset of CXCR5- CD11c+ cells (DN2) representing ...
Full text
Available for: UL

PDF
4.
  • Prediction of complicated d... Prediction of complicated disease course for children newly diagnosed with Crohn's disease: a multicentre inception cohort study
    Kugathasan, Subra, Dr; Denson, Lee A, MD; Walters, Thomas D, MD ... Lancet, 04/2017, Volume: 389, Issue: 10080
    Journal Article
    Peer reviewed
    Open access

    Summary Background Stricturing and penetrating complications account for substantial morbidity and health-care costs in paediatric and adult onset Crohn's disease. Validated models to predict risk ...
Full text
Available for: UL

PDF
5.
  • Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression
    Võsa, Urmo; Claringbould, Annique; Bonder, Marc Jan ... Nature genetics, 09/2021, Volume: 53, Issue: 9
    Journal Article
    Peer reviewed
    Open access

    Trait-associated genetic variants affect complex phenotypes primarily via regulatory mechanisms on the transcriptome. To investigate the genetics of gene expression, we performed cis- and ...
Full text
Available for: UL

PDF
6.
  • Reconstructing the Populati... Reconstructing the Population History of European Romani from Genome-wide Data
    Mendizabal, Isabel; Lao, Oscar; Marigorta, Urko M. ... CB/Current biology, 12/2012, Volume: 22, Issue: 24
    Journal Article
    Peer reviewed
    Open access

    The Romani, the largest European minority group with approximately 11 million people 1, constitute a mosaic of languages, religions, and lifestyles while sharing a distinct social heritage. ...
Full text
Available for: UL

PDF
7.
  • Genome-wide association ana... Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes
    Xue, Angli; Wu, Yang; Zhu, Zhihong ... Nature communications, 07/2018, Volume: 9, Issue: 1
    Journal Article
    Peer reviewed
    Open access

    Type 2 diabetes (T2D) is a very common disease in humans. Here we conduct a meta-analysis of genome-wide association studies (GWAS) with ~16 million genetic variants in 62,892 T2D cases and 596,424 ...
Full text
Available for: UL

PDF
8.
  • Genetic factors affecting E... Genetic factors affecting EBV copy number in lymphoblastoid cell lines derived from the 1000 Genome Project samples
    Mandage, Rajendra; Telford, Marco; Rodríguez, Juan Antonio ... PloS one, 06/2017, Volume: 12, Issue: 6
    Journal Article
    Peer reviewed
    Open access

    Epstein-Barr virus (EBV), human herpes virus 4, has been classically associated with infectious mononucleosis, multiple sclerosis and several types of cancers. Many of these diseases show marked ...
Full text
Available for: UL

PDF
9.
  • Transcriptional risk scores... Transcriptional risk scores link GWAS to eQTLs and predict complications in Crohn's disease
    Marigorta, Urko M; Denson, Lee A; Hyams, Jeffrey S ... Nature genetics, 10/2017, Volume: 49, Issue: 10
    Journal Article
    Peer reviewed
    Open access

    Gene expression profiling can be used to uncover the mechanisms by which loci identified through genome-wide association studies (GWAS) contribute to pathology. Given that most GWAS hits are in ...
Full text
Available for: UL

PDF
10.
  • A Burden of Rare Variants A... A Burden of Rare Variants Associated with Extremes of Gene Expression in Human Peripheral Blood
    Zhao, Jing; Akinsanmi, Idowu; Arafat, Dalia ... American journal of human genetics, 02/2016, Volume: 98, Issue: 2
    Journal Article
    Peer reviewed
    Open access

    In order to evaluate whether rare regulatory variants in the vicinity of promoters are likely to impact gene expression, we conducted a novel burden test for enrichment of rare variants at the ...
Full text
Available for: UL

PDF
1 2 3 4 5
hits: 52

Load filters