Evidence map›Paper›PMID 25927638›Full record

ArticleGenetics, selection, evolution : GSE2014

Imputation of sequence level genotypes in the Franches-Montagnes horse breed.

Mirjam Frischknecht, Markus Neuditschko, Vidhya Jagannathan, Cord Drögemüller, Jens Tetens, Georg Thaller, Tosso Leeb, Stefan Rieder

Abstract read
In one paragraph

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 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing 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

15 citing papers in PubMed.

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  15. Genotype imputation in the domestic dog.Mammalian genome : official journal of the International Mammalian Genome Society · 2016
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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.

Mirjam FrischknechtAgroscope - Swiss National Stud Farm, 1580, Avenches, Switzerland. mirjam.frischknecht@vetsuisse.unibe.ch.
Markus NeuditschkoAgroscope - Swiss National Stud Farm, 1580, Avenches, Switzerland. markus.neuditschko@agroscope.admin.ch.
Vidhya JagannathanInstitute of Genetics, Vetsuisse Faculty, University of Bern, 3001, Bern, Switzerland. vidhya.jagannathan@vetsuisse.unibe.ch.
Cord DrögemüllerInstitute of Genetics, Vetsuisse Faculty, University of Bern, 3001, Bern, Switzerland. cord.droegemueller@vetsuisse.unibe.ch.
Jens TetensInstitute of Animal Breeding and Husbandry, Christian-Albrechts-University, 24118, Kiel, Germany. jtetens@tierzucht.uni-kiel.de.
Georg ThallerInstitute of Animal Breeding and Husbandry, Christian-Albrechts-University, 24118, Kiel, Germany. gthaller@tierzucht.uni-kiel.de.
Tosso LeebInstitute of Genetics, Vetsuisse Faculty, University of Bern, 3001, Bern, Switzerland. tosso.leeb@vetsuisse.unibe.ch.
Stefan RiederAgroscope - Swiss National Stud Farm, 1580, Avenches, Switzerland. stefan.rieder@agroscope.admin.ch.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundA cost-effective strategy to increase the density of available markers within a population is to sequence a small proportion of the population and impute whole-genome sequence data for the remaining population. Increased densities of typed markers are advantageous for genome-wide association studies (GWAS) and genomic predictions.

methodsWe obtained genotypes for 54 602 SNPs (single nucleotide polymorphisms) in 1077 Franches-Montagnes (FM) horses and Illumina paired-end whole-genome sequencing data for 30 FM horses and 14 Warmblood horses. After variant calling, the sequence-derived SNP genotypes (~13 million SNPs) were used for genotype imputation with the software programs Beagle, Impute2 and FImpute.

resultsThe mean imputation accuracy of FM horses using Impute2 was 92.0%. Imputation accuracy using Beagle and FImpute was 74.3% and 77.2%, respectively. In addition, for Impute2 we determined the imputation accuracy of all individual horses in the validation population, which ranged from 85.7% to 99.8%. The subsequent inclusion of Warmblood sequence data further increased the correlation between true and imputed genotypes for most horses, especially for horses with a high level of admixture. The final imputation accuracy of the horses ranged from 91.2% to 99.5%.

conclusionsUsing Impute2, the imputation accuracy was higher than 91% for all horses in the validation population, which indicates that direct imputation of 50k SNP-chip data to sequence level genotypes is feasible in the FM population. The individual imputation accuracy depended mainly on the applied software and the level of admixture.

Indexed as

Genome-Wide Association StudyPolymorphism, Single NucleotideAnimalsFemaleGenomicsGenotypeHigh-Throughput Nucleotide SequencingHorsesMalePedigreeSoftware

Identifiers

PMID25927638
PMCPMC4180851

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LicenceCC BY
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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.