Evidence map›Paper›PMID 31215703›Full record

ArticleJournal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie2019

Significance testing and genomic inflation factor using high-density genotypes or whole-genome sequence data.

Sanne van den Berg, Jérémie Vandenplas, Fred A van Eeuwijk, Marcos S Lopes, Roel F Veerkamp

Abstract read
In one paragraph

Article in Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
37citing papers in PubMed, 1 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

37 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Meta-Analysis for Epigenome-Wide Association Studies.Methods in molecular biology (Clifton, N.J.) · 2022
    Pooled it
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  9. Genotypic and phenotypic consequences of domestication in dogs.bioRxiv : the preprint server for biology · 2025
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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

5 authors.

Sanne van den BergAnimal Breeding and Genomics, Wageningen University and Research, Wageningen, The Netherlands.
Jérémie VandenplasAnimal Breeding and Genomics, Wageningen University and Research, Wageningen, The Netherlands.ORCID https://orcid.org/0000-0002-2554-072X
Fred A van EeuwijkBiometris, Wageningen University and Research, Wageningen, The Netherlands.
Marcos S LopesTopigs Norsvin Research Center, Beuningen, the Netherlands.ORCID https://orcid.org/0000-0002-4715-853X
Roel F VeerkampAnimal Breeding and Genomics, Wageningen University and Research, Wageningen, The Netherlands.ORCID https://orcid.org/0000-0002-5240-6534

Funding

TTW/TKI Agri & Food project 16022 BO-22.04-011-001-ASG-LR
6 · The paper itself

Abstract

Significance testing for genome-wide association study (GWAS) with increasing SNP density up to whole-genome sequence data (WGS) is not straightforward, because of strong LD between SNP and population stratification. Therefore, the objective of this study was to investigate genomic control and different significance testing procedures using data from a commercial pig breeding scheme. A GWAS was performed in GCTA with data of 4,964 Large White pigs using medium density, high density or imputed whole-genome sequence data, fitting a genomic relationship matrix based on a leave-one-chromosome-out approach to account for population structure. Subsequently, genomic inflation factors were assessed on whole-genome level and the chromosome level. To establish a significance threshold, permutation testing, Bonferroni corrections using either the total number of SNPs or the number of independent chromosome fragments, and false discovery rates (FDR) using either the Benjamini-Hochberg procedure or the Benjamini and Yekutieli procedure were evaluated. We found that genomic inflation factors did not differ between different density genotypes but do differ between chromosomes. Also, the leave-one-chromosome-out approach for GWAS or using the pedigree relationships did not account appropriately for population stratification and gave strong genomic inflation. Regarding different procedures for significance testing, when the aim is to find QTL regions that are associated with a trait of interest, we recommend applying the FDR following the Benjamini and Yekutieli approach to establish a significance threshold that is adjusted for multiple testing. When the aim is to pinpoint a specific mutation, the more conservative Bonferroni correction based on the total number of SNPs is more appropriate, till an appropriate method is established to adjust for the number of independent tests.

Indexed as

Genome-Wide Association StudyGenomicsGenotypeWhole Genome SequencingAnimalsBreedingPolymorphism, Single NucleotideQuantitative Trait LociSwineDNA analysisgenome-wide association studiespig populationsignificance testingwhole-genome sequence

Identifiers

PMID31215703
PMCPMC6900143

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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.