Evidence map›Paper›PMID 25022768›Full record

ArticleGenetics, selection, evolution : GSE2014

Accuracy of imputation to whole-genome sequence data in Holstein Friesian cattle.

Rianne van Binsbergen, Marco Cam Bink, Mario Pl Calus, Fred A van Eeuwijk, Ben J Hayes, Ina Hulsegge, Roel F Veerkamp

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Article in Genetics, selection, evolution : GSE, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 86 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
86citing papers in PubMed, 2 pooled it
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1 · What the graph read from it

What it found

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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

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3 · Its place in the literature

Who cites it

86 citing papers in PubMed, 2 syntheses or guidelines pooled it.

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4 · The record

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5 · Who and what money

Authors and funding

7 authors.

Rianne van BinsbergenAnimal Breeding and Genomics Centre, Wageningen UR Livestock Research, P,O, Box 338, 6700 AH Wageningen, the Netherlands. rianne.vanbinsbergen@wur.nl.
Marco Cam Bink
Mario Pl Calus
Fred A van Eeuwijk
Ben J Hayes
Ina Hulsegge
Roel F Veerkamp

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe use of whole-genome sequence data can lead to higher accuracy in genome-wide association studies and genomic predictions. However, to benefit from whole-genome sequence data, a large dataset of sequenced individuals is needed. Imputation from SNP panels, such as the Illumina BovineSNP50 BeadChip and Illumina BovineHD BeadChip, to whole-genome sequence data is an attractive and less expensive approach to obtain whole-genome sequence genotypes for a large number of individuals than sequencing all individuals. Our objective was to investigate accuracy of imputation from lower density SNP panels to whole-genome sequence data in a typical dataset for cattle.

methodsWhole-genome sequence data of chromosome 1 (1737 471 SNPs) for 114 Holstein Friesian bulls were used. Beagle software was used for imputation from the BovineSNP50 (3132 SNPs) and BovineHD (40 492 SNPs) beadchips. Accuracy was calculated as the correlation between observed and imputed genotypes and assessed by five-fold cross-validation. Three scenarios S40, S60 and S80 with respectively 40%, 60%, and 80% of the individuals as reference individuals were investigated.

resultsMean accuracies of imputation per SNP from the BovineHD panel to sequence data and from the BovineSNP50 panel to sequence data for scenarios S40 and S80 ranged from 0.77 to 0.83 and from 0.37 to 0.46, respectively. Stepwise imputation from the BovineSNP50 to BovineHD panel and then to sequence data for scenario S40 improved accuracy per SNP to 0.65 but it varied considerably between SNPs.

conclusionsAccuracy of imputation to whole-genome sequence data was generally high for imputation from the BovineHD beadchip, but was low from the BovineSNP50 beadchip. Stepwise imputation from the BovineSNP50 to the BovineHD beadchip and then to sequence data substantially improved accuracy of imputation. SNPs with a low minor allele frequency were more difficult to impute correctly and the reliability of imputation varied more. Linkage disequilibrium between an imputed SNP and the SNP on the lower density panel, minor allele frequency of the imputed SNP and size of the reference group affected imputation reliability.

Indexed as

AllelesAnimalsCattleChromosomesGene FrequencyGenetic Association StudiesGenomicsGenotypeGenotyping TechniquesLinkage DisequilibriumMaleModels, GeneticOligonucleotide Array Sequence AnalysisPolymorphism, Single NucleotideReproducibility of Results

Identifiers

PMID25022768
PMCPMC4226983

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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.