Evidence map›Paper›PMID 33090994›Full record

ArticlePLoS computational biology2020

LocusFocus: Web-based colocalization for the annotation and functional follow-up of GWAS.

Naim Panjwani, Fan Wang, Scott Mastromatteo, Allen Bao, Cheng Wang, Gengming He, Jiafen Gong, Johanna M Rommens, Lei Sun, Lisa J Strug

Abstract read
In one paragraph

Article in PLoS computational biology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 6 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
31citing papers in PubMed, 6 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

31 citing papers in PubMed, 6 syntheses or guidelines pooled it.

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  14. Genome-wide association study of susceptibility toThe European respiratory journal · 2024
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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

10 authors.

Naim PanjwaniProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID 0000-0001-7551-0759
Fan WangDepartment of Statistical Sciences, University of Toronto, Toronto, Ontario, Canada.
Scott MastromatteoProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID 0000-0002-3551-2247
Allen BaoProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID 0000-0001-7127-7494
Cheng WangProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Gengming HeProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Jiafen GongProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Johanna M RommensProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID 0000-0001-8732-825X
Lei SunDepartment of Statistical Sciences, University of Toronto, Toronto, Ontario, Canada.ORCID 0000-0002-5640-937X
Lisa J StrugProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.

Funding

CIHR 201809FDN-407295
6 · The paper itself

Abstract

Genome-wide association studies (GWAS) have primarily identified trait-associated loci in the non-coding genome. Colocalization analyses of SNP associations from GWAS with expression quantitative trait loci (eQTL) evidence enable the generation of hypotheses about responsible mechanism, genes and tissues of origin to guide functional characterization. Here, we present a web-based colocalization browsing and testing tool named LocusFocus (https://locusfocus.research.sickkids.ca). LocusFocus formally tests colocalization using our established Simple Sum method to identify the most relevant genes and tissues for a particular GWAS locus in the presence of high linkage disequilibrium and/or allelic heterogeneity. We demonstrate the utility of LocusFocus, following up on a genome-wide significant locus from a GWAS of meconium ileus (an intestinal obstruction in cystic fibrosis). Using LocusFocus for colocalization analysis with eQTL data suggests variation in ATP12A gene expression in the pancreas rather than intestine is responsible for the GWAS locus. LocusFocus has no operating system dependencies and may be installed in a local web server. LocusFocus is available under the MIT license, with full documentation and source code accessible on GitHub at https://github.com/naim-panjwani/LocusFocus.

Indexed as

Computational BiologyCystic FibrosisGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansInternetLinkage DisequilibriumMolecular Sequence AnnotationPolymorphism, Single NucleotideQuantitative Trait LociSoftware

Identifiers

PMID33090994
PMCPMC7608978

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.