Evidence map›Paper›PMID 42367912›Full record

ArticlebioRxiv : the preprint server for biology2026

Predicted Effector Gene Aggregation, Standards and Unified Schema (PEGASUS): A Community Framework for Effector Gene Reporting.

A McMahon, Y Ji, J A Jurgens, M C Costanzo, A S Butterworth, M Pahl, S Szyszkowski, K Heilbron, A Shiyanbola, Y Tsepilov and 7 more

Abstract readPreprint
In one paragraph

Article in bioRxiv : the preprint server for biology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

17 authors.

A McMahonEuropean Bioinformatics Institute, European Molecular Biology Laboratory, Hinxton, UK.ORCID 0000-0003-0978-0309
Y JiEuropean Bioinformatics Institute, European Molecular Biology Laboratory, Hinxton, UK.ORCID 0000-0001-9844-7297
J A JurgensPrograms in Metabolism and Medical & Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA USA.
M C CostanzoPrograms in Metabolism and Medical & Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA USA.ORCID 0000-0001-9043-693X
A S ButterworthBritish Heart Foundation Centre of Research Excellence, School of Clinical Medicine, Addenbrooke's Hospital, University of Cambridge, Cambridge CB2 0BB, UK.ORCID 0000-0002-6915-9015
M PahlCenter for Spatial and Functional Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0002-4720-1921
S SzyszkowskiOpen Targets, Wellcome Genome Campus, Hinxton, UK.ORCID 0009-0005-6095-2139
K HeilbronDepartment of Psychiatry and Psychotherapy, Charité - Universitätsmedizin Berlin, Berlin, Germany.ORCID 0000-0003-4776-1723
A ShiyanbolaSection of Statistical Multi-omics, Department of Clinical and Experimental Medicine, University of Surrey, UK.
Y TsepilovOpen Targets, Wellcome Genome Campus, Hinxton, UK.ORCID 0000-0002-4931-6052
C N SpracklenDepartment of Biostatistics and Epidemiology, University of Massachusetts Amherst, Amherst, MA USA.ORCID 0000-0003-3590-7182
D HitePrograms in Metabolism and Medical & Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA USA.
A ShilinPrograms in Metabolism and Medical & Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA USA.ORCID 0009-0004-2349-2471
PEG Working Group
H ParkinsonEuropean Bioinformatics Institute, European Molecular Biology Laboratory, Hinxton, UK.ORCID 0000-0003-3035-4195
N BurttPrograms in Metabolism and Medical & Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA USA.ORCID 0009-0006-4893-7945
L W HarrisEuropean Bioinformatics Institute, European Molecular Biology Laboratory, Hinxton, UK.ORCID 0000-0003-4312-7223

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genome-wide association studies (GWAS) increasingly report predicted effector genes (PEGs) - genes hypothesised to mediate the biological effects of associated variants. These function as key outputs for advancing variant-to-function research, mechanistic understanding, and therapeutic discovery. However, the rapid growth of PEG lists has not been matched by standards for organising, annotating, and reporting these predictions. As shown by recent landscape analyses, PEG lists vary widely in methodology, evidence definition, nomenclature, provenance tracking, and data structure, limiting interoperability, benchmarking, reuse, and adherence to FAIR principles. To address this gap, we convened an international multi-stakeholder community comprising method developers, data generators, resource maintainers, curators, funders, journal editors, and downstream users. Through a 2024 workshop and a 2025 working group series, we developed the Predicted Effector Gene Aggregation, Standards and Unified Schema (PEGASUS) framework. PEGASUS specifies (i) a metadata standard to capture provenance, trait and GWAS descriptors, evidence sources, and integration methods; (ii) a structured evidence matrix reporting all genes and all evidence underpinning prioritisation at each locus; and (iii) a concise PEG list that summarises author-prioritised genes linked transparently to underlying evidence. The framework balances transparency, machine readability, burden on submitters, and alignment with existing community standards. PEGASUS provides the first community-developed schema for reporting predicted effector genes and their supporting evidence. Adoption of this framework by authors will improve the comparability, reproducibility, and reusability of PEG outputs across studies, facilitating more robust biological inference, enabling cross-resource comparison of gene-prioritisation methods to support community benchmarking, and integration into downstream resources and analytical pipelines. PEGASUS-compliant data can be shared via the PEG Data Registry platform (https://kpndataregistry.org/peg), promoting re-use and establishing the basis for future integration with publicly shared GWAS data.

Identifiers

PMID42367912
PMCPMC13307929

What OpenQuestion holds

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Registered trials

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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.