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CONQUER: an interactive toolbox to understand functional consequences of GWAS hits

Numerous large genome-wide association studies have been performed to understand the influence of genetics on traits. Many identified risk loci are in non-coding and intergenic regions, which complicates understanding how genes and their downstream pathways are influenced. An integrative data approa...

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Detalles Bibliográficos
Autores principales: Bouland, Gerard A, Beulens, Joline W J, Nap, Joey, van der Slik, Arno R, Zaldumbide, Arnaud, ’t Hart, Leen M, Slieker, Roderick C
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7671384/
https://www.ncbi.nlm.nih.gov/pubmed/33575630
http://dx.doi.org/10.1093/nargab/lqaa085
Descripción
Sumario:Numerous large genome-wide association studies have been performed to understand the influence of genetics on traits. Many identified risk loci are in non-coding and intergenic regions, which complicates understanding how genes and their downstream pathways are influenced. An integrative data approach is required to understand the mechanism and consequences of identified risk loci. Here, we developed the R-package CONQUER. Data for SNPs of interest are acquired from static- and dynamic repositories (build GRCh38/hg38), including GTExPortal, Epigenomics Project, 4D genome database and genome browsers. All visualizations are fully interactive so that the user can immediately access the underlying data. CONQUER is a user-friendly tool to perform an integrative approach on multiple SNPs where risk loci are not seen as individual risk factors but rather as a network of risk factors.