Evidence map›Paper›PMID 40737338›Full record

ArticlePLoS genetics2025

Enhanced genetic fine mapping accuracy with Bayesian Linear Regression models in diverse genetic architectures.

Merina Shrestha, Zhonghao Bai, Tahereh Gholipourshahraki, Astrid J Hjelholt, Sile Hu, Mads Kjolby, Palle Duun Rohde, Peter Sørensen

Abstract read
In one paragraph

Article in PLoS genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

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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

8 authors.

Merina ShresthaCenter for Quantitative Genetics and Genomics, Aarhus University, Aarhus, Denmark.ORCID https://orcid.org/0009-0003-2045-9564
Zhonghao BaiCenter for Quantitative Genetics and Genomics, Aarhus University, Aarhus, Denmark.
Tahereh GholipourshahrakiCenter for Quantitative Genetics and Genomics, Aarhus University, Aarhus, Denmark.ORCID https://orcid.org/0000-0003-0228-4177
Astrid J HjelholtDepartment of Biomedicine, Aarhus University, Aarhus, Denmark.
Sile HuHuman Genetic Center of Excellence, Novo Nordisk Research Centre Oxford, Oxford, United Kingdom.ORCID https://orcid.org/0000-0002-8437-7387
Mads KjolbyDepartment of Biomedicine, Aarhus University, Aarhus, Denmark.
Palle Duun RohdeGenomic Medicine, Department of Health Science and Technology, Aalborg University, Aalborg, Denmark.ORCID https://orcid.org/0000-0003-4347-8656
Peter SørensenCenter for Quantitative Genetics and Genomics, Aarhus University, Aarhus, Denmark.ORCID https://orcid.org/0000-0003-1213-2660

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We evaluated Bayesian Linear Regression (BLR) models with BayesC and BayesR priors as statistical genetic fine-mapping tools, comparing their performance to established methods such as FINEMAP and SuSiE. Through extensive simulations and analyses of UK Biobank (UKB) phenotypes, we assessed F1 classification scores and predictive accuracy across models. Simulations encompassed diverse genetic architectures varying in polygenicity, heritability, causal SNP proportions, and disease prevalence. In the empirical analyses, we used over 6.6 million imputed SNPs and phenotypic data from more than 335,000 UKB participants. Our results show that BLR models, particularly those using the BayesR prior, consistently achieved higher F1 scores than the external methods, but having comparable predictive accuracy. Applying the BLR model at the region-wide level generally yielded better F1 scores than the genome-wide approach, except for traits with high polygenicity. These findings highlight BLR models as accurate and robust tools for statistical fine mapping in both simulated and empirical genetic datasets.

Indexed as

Chromosome MappingModels, GeneticBayes TheoremComputer SimulationGenome-Wide Association StudyHumansLinear ModelsMultifactorial InheritancePhenotypePolymorphism, Single NucleotideQuantitative Trait Loci

Identifiers

PMID40737338
PMCPMC12327644

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.