Evidence map›Paper›PMID 29184056›Full record

ArticleNature communications2017

Functional mapping and annotation of genetic associations with FUMA.

Kyoko Watanabe, Erdogan Taskesen, Arjen van Bochoven, Danielle Posthuma

Abstract read
In one paragraph

Article in Nature communications, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2,714 papers, 20 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2,714citing papers in PubMed, 20 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2,714 citing papers in PubMed, 20 syntheses or guidelines pooled it.

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2,654 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Kyoko WatanabeDepartment of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, VU University Amsterdam, Amsterdam, 1081 HV, The Netherlands.
Erdogan TaskesenDepartment of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, VU University Amsterdam, Amsterdam, 1081 HV, The Netherlands.ORCID http://orcid.org/0000-0002-3430-9618
Arjen van BochovenFaculty of Science, VU University Amsterdam, Amsterdam, 1081 HV, The Netherlands.
Danielle PosthumaDepartment of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, VU University Amsterdam, Amsterdam, 1081 HV, The Netherlands. danielle.posthuma@vu.nl.ORCID http://orcid.org/0000-0001-7582-2365

Funding

EPA EP-C-14-005
6 · The paper itself

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 facilitate functional annotation of GWAS results, gene prioritization and interactive visualization. FUMA accommodates positional, expression quantitative trait loci (eQTL) and chromatin interaction mappings, and provides gene-based, pathway and tissue enrichment results. FUMA results directly aid in generating hypotheses that are testable in functional experiments aimed at proving causal relations.

Indexed as

Databases, GeneticLinkage DisequilibriumChromatinChromosome MappingComputational BiologyCrohn DiseaseGenetic Predisposition to DiseaseGenome, HumanGenome-Wide Association StudyHumansInternetMolecular Sequence AnnotationQuantitative Trait LociChromatin

Identifiers

PMID29184056
PMCPMC5705698

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.