articleNature CommunicationsNov 22, 2017GOLD OA

Functional mapping and annotation of genetic associations with FUMA

Amsterdam UMC Location Vrije Universiteit Amsterdam · Vrije Universiteit Amsterdam · +2 more institutions

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Abstract

A main challenge in genome-wide association studies (GWAS) is to pinpoint possible causal variants. Results from GWAS typically do not directly translate into causal variants because the majority of hits are in non-coding or intergenic regions, and the presence of linkage disequilibrium leads to effects being statistically spread out across multiple variants. Post-GWAS annotation facilitates the selection of most likely causal variant(s). Multiple resources are available for post-GWAS annotation, yet these can be time consuming and do not provide integrated visual aids for data interpretation. We, therefore, develop FUMA: an integrative web-based platform using information from multiple biological resources to…

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Authors

4

Topics & keywords

Keywords
  • Genome-wide association study
  • Annotation
  • Expression quantitative trait loci
  • Linkage disequilibrium
  • Genetic association
  • Computational biology
  • Biology
  • Computer science
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