Evidence map›Paper›PMID 39020054›Full record

ReviewCommunications biology2024

Imperfect gold standard gene sets yield inaccurate evaluation of causal gene identification methods.

Lijia Wang, Xiaoquan Wen, Jean Morrison

Abstract readReview
In one paragraph

Review in Communications biology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Review
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

3 authors.

Lijia WangDepartment of Biostatistics, University of Michigan, Ann Arbor, MI, USA.
Xiaoquan WenDepartment of Biostatistics, University of Michigan, Ann Arbor, MI, USA. xwen@umich.edu.ORCID 0000-0001-8990-2737
Jean MorrisonDepartment of Biostatistics, University of Michigan, Ann Arbor, MI, USA. jvmorr@umich.edu.ORCID 0000-0003-4829-8283

Funding

Resolving Methodological Challenges in Genomics Research: Causality, Risk Prediction, and Reproducibility: Administrative SupplementR35GM138121 · NIGMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Xiaoquan Wen · 2020 to 2026
$2.4M
NIGMS NIH HHS R35 GM138121
6 · The paper itself

Abstract

Causal gene discovery methods are often evaluated using reference sets of causal genes, which are treated as gold standards (GS) for the purposes of evaluation. However, evaluation methods typically treat genes not in the GS positive set as known negatives rather than unknowns. This leads to inaccurate estimates of sensitivity, specificity, and AUC. Labeling biases in GS gene sets can also lead to inaccurate ordering of alternative causal gene discovery methods. We argue that the evaluation of causal gene discovery methods should rely on statistical techniques like those used for variant discovery rather than on comparison with GS gene sets.

Indexed as

Reference StandardsDatabases, GeneticHumans

Identifiers

PMID39020054
PMCPMC11255313

What OpenQuestion holds

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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.