Evidence map›Paper›PMID 40503678›Full record

ArticleG3 (Bethesda, Md.)2025

Semi-parametric validation of genomic predictions and polygenic risk scores with the Blupf90 software suite.

Matias Bermann, Alejandra Álvarez Múnera, Ignacy Misztal, Daniela Lourenco

Abstract read
In one paragraph

Article in G3 (Bethesda, Md.), 2025. 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. 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

4 authors.

Matias BermannDepartment of Animal and Dairy Science, University of Georgia, Athens, GA 30602, USA.ORCID 0000-0002-5374-0710
Alejandra Álvarez MúneraDepartment of Animal and Dairy Science, University of Georgia, Athens, GA 30602, USA.ORCID 0000-0003-1746-1287
Ignacy MisztalDepartment of Animal and Dairy Science, University of Georgia, Athens, GA 30602, USA.ORCID 0000-0002-0382-1897
Daniela LourencoDepartment of Animal and Dairy Science, University of Georgia, Athens, GA 30602, USA.ORCID 0000-0003-3140-1002

Funding

Agriculture and Food Research Initiative Competitive 2020-67015-31030US Department of Agriculture's National Institute of Food and Agriculture
6 · The paper itself

Abstract

Validation of genomic predictions or polygenic risk scores is key for model selection and evaluating the performance of the chosen prediction machinery. Non-parametric validation, such as cross-validation, is popular but does not account for population structure and the fact that the interest could be in validating a set of individuals and not the entire population. Semi-parametric methods, such as the LR method, also use removed records to validate predictions, account for population structure, and allow focus on a specific set of individuals of interest. Confidence intervals are obtained using semi-parametric methods without the need for repeated cross-validation. We developed a tool within the Blupf90 software suite, called validationf90, that allows researchers to conduct semi-parametric validation from the solutions obtained from that software suite. validationf90 calculates different validation statistics and their confidence intervals for a pre-defined set of individuals of interest, reflecting the bias and accuracy of genomic predictions. The program allows for genomic predictions obtained from frequentist and Bayesian methods, as well as for categorical data. validationf90 can validate any model supported by the Blupf90 software suite and can be used with animal, plant, and human datasets. Predictions obtained with other software can be provided to validationf90 as long as the input format matches with the Blupf90 format.

Indexed as

GenomicsMultifactorial InheritanceSoftwareAnimalsBayes TheoremGenetic Risk ScoreHumansModels, GeneticReproducibility of Resultsaccuracygenomic predictionspolygenic risk scoresvalidation

Identifiers

PMID40503678
PMCPMC12341872

What Socratic 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 Socratic graph.