Evidence map›Paper›PMID 37380954›Full record

ArticleBMC bioinformatics2023

topr: an R package for viewing and annotating genetic association results.

Thorhildur Juliusdottir

Abstract read
In one paragraph

Article in BMC bioinformatics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
34citing papers in PubMed, 2 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

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

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  20. An Increase in Male Recombination Rate With Age in Dairy Cattle Is Heritable and Polygenic.Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie · 2026
    Article
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

1 author.

Thorhildur JuliusdottirGeneDx Iceland, Katrinartun 4, 105, Reykjavík, Iceland. totajuliusd@gmail.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe successful identification of genetic loci for complex traits in genome-wide association studies (GWAS) has resulted in thousands of GWAS summary statistics becoming publicly available for hundreds of complex traits from multiple cohorts and studies. Visualisation is an important aid for interpreting, comparing, validating, and obtaining an overview of large amounts of data. However, the current software is limited in its ability and flexibility to annotate and simultaneously display multiple GWAS results which is useful when interpreting and comparing association results. Therefore, I created the topr R package to facilitate visualisation, annotation, and comparisons of single or multiple GWAS results. It contains functions tailored for viewing and analysing GWAS results.

resultstopr provides a fast and elegant visual display of association results, along with the annotation of association peaks with their nearest gene. Association results from multiple analyses can be viewed simultaneously over the entire genome or in a more detailed regional view along with gene information. Users can perform the essential steps of visually exploring and annotating association results and generating elegant publication-ready plots.

conclusionstopr is developed as a package for the R statistical computing environment, released under the GNU General Public License, and is freely available on the Comprehensive R Archive Network ( http://cran.r-project.org/package=topr ). The source code is available at GitHub ( https://github.com/totajuliusd/topr ). topr provides several advantages and advances over the current alternatives, particularly in its gene annotation functionality and customisable display of single- or multiple-association results. With topr, I provide a flexible tool with multiple features to aid in the analysis and evaluation of GWAS association results.

Indexed as

Genome-Wide Association StudySoftwareGenetic LociMathematical ComputingMolecular Sequence AnnotationAnnotationAssociation analysisGWASManhattanR packageVisualisation

Identifiers

PMID37380954
PMCPMC10308657

What OpenQuestion holds

Textmetadata
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.