A main challenge in genome-wide association studies (GWAS) is to interpret statistical findings in biological context. Post-GWAS annotation facilitates this task yet currently available tools can be time consuming and do not provide integrated visual aids for data interpretation. PhD student Kyoko Watanabe from the Department Complex Trait Genetics developed FUMA: an integrative web-based platform using information from multiple biological resources to facilitate functional annotation of GWAS results, gene prioritization and interactive visualization. The accompanying paper was published this week in Nature Communications.
GWAS studies have yielded many statistical associations to a variety of traits. Interpreting these associations and generating functional hypotheses that can be tested in wet-lab experiments, is a major challenge. This is especially challenging for complex traits where multiple genetic variants each of small effect are causally involved. Annotation of associated variants with biological information may aid in understanding the biological relevance of GWAS findings. However, such annotation requires the combination of multiple data resources as well as interpretation of huge amounts of annotated data. FUMA is a web-based, easy to use tool that only requires to upload GWAS summary statistics. It will then carry out functional annotation of lead variants as well as variants that are correlated with these. This provides information on whether associated variants e.g. lead to truncated proteins, over-expression of a gene in a certain tissue or whether multiple variants are linked via a common functional pathway. All annotated results are visualized to facilitate interpretation. The results of FUMA can be translated into testable functional hypothesis and aid in uncovering mechanistic pathways underlying human traits and diseases.
The tool can be accessed via the “FUMA website”: http://fuma.ctglab.nl
The publication is available from “Nature Communications”: https://www.nature.com/articles/s41467-017-01261-5