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Träfflista för sökning "WFRF:(Ring C.) "

Search: WFRF:(Ring C.)

  • Result 1-10 of 116
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  • Franceschini, N., et al. (author)
  • GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes
  • 2018
  • In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 9:1
  • Journal article (peer-reviewed)abstract
    • Carotid artery intima media thickness (cIMT) and carotid plaque are measures of subclinical atherosclerosis associated with ischemic stroke and coronary heart disease (CHD). Here, we undertake meta-analyses of genome-wide association studies (GWAS) in 71,128 individuals for cIMT, and 48,434 individuals for carotid plaque traits. We identify eight novel susceptibility loci for cIMT, one independent association at the previously-identified PINX1 locus, and one novel locus for carotid plaque. Colocalization analysis with nearby vascular expression quantitative loci (cis-eQTLs) derived from arterial wall and metabolic tissues obtained from patients with CHD identifies candidate genes at two potentially additional loci, ADAMTS9 and LOXL4. LD score regression reveals significant genetic correlations between cIMT and plaque traits, and both cIMT and plaque with CHD, any stroke subtype and ischemic stroke. Our study provides insights into genes and tissue-specific regulatory mechanisms linking atherosclerosis both to its functional genomic origins and its clinical consequences in humans. © 2018, The Author(s).
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  • Romagnoni, A, et al. (author)
  • Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data
  • 2019
  • In: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 9:1, s. 10351-
  • Journal article (peer-reviewed)abstract
    • Crohn Disease (CD) is a complex genetic disorder for which more than 140 genes have been identified using genome wide association studies (GWAS). However, the genetic architecture of the trait remains largely unknown. The recent development of machine learning (ML) approaches incited us to apply them to classify healthy and diseased people according to their genomic information. The Immunochip dataset containing 18,227 CD patients and 34,050 healthy controls enrolled and genotyped by the international Inflammatory Bowel Disease genetic consortium (IIBDGC) has been re-analyzed using a set of ML methods: penalized logistic regression (LR), gradient boosted trees (GBT) and artificial neural networks (NN). The main score used to compare the methods was the Area Under the ROC Curve (AUC) statistics. The impact of quality control (QC), imputing and coding methods on LR results showed that QC methods and imputation of missing genotypes may artificially increase the scores. At the opposite, neither the patient/control ratio nor marker preselection or coding strategies significantly affected the results. LR methods, including Lasso, Ridge and ElasticNet provided similar results with a maximum AUC of 0.80. GBT methods like XGBoost, LightGBM and CatBoost, together with dense NN with one or more hidden layers, provided similar AUC values, suggesting limited epistatic effects in the genetic architecture of the trait. ML methods detected near all the genetic variants previously identified by GWAS among the best predictors plus additional predictors with lower effects. The robustness and complementarity of the different methods are also studied. Compared to LR, non-linear models such as GBT or NN may provide robust complementary approaches to identify and classify genetic markers.
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  • Result 1-10 of 116
Type of publication
journal article (109)
research review (3)
conference paper (2)
other publication (1)
book chapter (1)
Type of content
peer-reviewed (104)
other academic/artistic (11)
pop. science, debate, etc. (1)
Author/Editor
Ring, J. (33)
Darsow, U. (17)
Werfel, T (14)
Bousquet, J (13)
Bieber, T (13)
Zuberbier, T (13)
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Uitterlinden, AG (12)
Martin, NG (12)
Smith, GD (12)
Ring, SM (12)
Evans, David M (12)
Hottenga, JJ (11)
Boomsma, DI (11)
Jacobsson, Bo, 1960 (11)
Montgomery, GW (11)
Timpson, NJ (11)
Stefansson, K (11)
Wright, J (10)
Esko, T (10)
Simon, D. (9)
Willemsen, G (9)
Sunyer, J (9)
Bachert, C (9)
Hofman, A (9)
Valenta, R (9)
Snieder, H. (9)
Metspalu, A (9)
Ong, KK (9)
Milani, L (9)
Spector, TD (9)
Edwards, A. (8)
Audisio, Riccardo A (8)
Burton, M. (8)
Martin, C (8)
Todd, A (8)
Gudnason, V (8)
Medland, SE (8)
Maurer, M (8)
Jakob, T. (8)
McCarthy, Mark I (8)
Nolte, IM (8)
Wollenberg, A (8)
Wareham, NJ (8)
Gieger, C (8)
Worm, M (8)
Jarvelin, MR (8)
Canonica, GW (8)
Schmid-Grendelmeier, ... (8)
Haahtela, T (8)
Rivadeneira, Fernand ... (8)
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University
Karolinska Institutet (59)
University of Gothenburg (33)
Uppsala University (27)
Lund University (17)
Stockholm School of Economics (4)
Umeå University (3)
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Stockholm University (2)
Linköping University (2)
Mid Sweden University (2)
Kristianstad University College (1)
Royal Institute of Technology (1)
Luleå University of Technology (1)
Örebro University (1)
Linnaeus University (1)
University of Borås (1)
Swedish Museum of Natural History (1)
Swedish University of Agricultural Sciences (1)
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Language
English (116)
Research subject (UKÄ/SCB)
Medical and Health Sciences (54)
Natural sciences (10)
Social Sciences (4)
Engineering and Technology (1)

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