Evidence map›Paper›PMID 40890628›Full record

ArticleBMC genomics2025

High-quality, haplotype-resolved reference genomes of the Dutch warmblood horse and Friesian horse using trio binning.

Marije J Steensma, Bart J Ducro, Bert Dibbits, Harmen P Doekes, Job G C van Schipstal, Ted Kalblfleisch, Martien A M Groenen, Martijn F L Derks

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Article in BMC genomics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

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3citing papers in PubMed
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3 · Its place in the literature

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3 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Marije J SteensmaWageningen University & Research Animal Breeding and Genomics, P.O. Box 338, Wageningen, 6700 AH, the Netherlands. marije.steensma@wur.nl.
Bart J DucroWageningen University & Research Animal Breeding and Genomics, P.O. Box 338, Wageningen, 6700 AH, the Netherlands.
Bert DibbitsWageningen University & Research Animal Breeding and Genomics, P.O. Box 338, Wageningen, 6700 AH, the Netherlands.
Harmen P DoekesWageningen University & Research Animal Breeding and Genomics, P.O. Box 338, Wageningen, 6700 AH, the Netherlands.
Job G C van SchipstalWageningen University & Research Animal Breeding and Genomics, P.O. Box 338, Wageningen, 6700 AH, the Netherlands.
Ted KalblfleischMaxwell H. Gluck Equine Research Center, University of Kentucky, Lexington, KY, 40546, USA.
Martien A M GroenenWageningen University & Research Animal Breeding and Genomics, P.O. Box 338, Wageningen, 6700 AH, the Netherlands.
Martijn F L DerksWageningen University & Research Animal Breeding and Genomics, P.O. Box 338, Wageningen, 6700 AH, the Netherlands.

Funding

Topconsortium voor Kennis en Innovatie 4164023400
6 · The paper itself

Abstract

backgroundIn horses, genetic diversity is predominantly observed between breeds, with little variation within breeds. The studbooks of the two largest horse populations in the Netherlands, the Dutch Warmblood horse and Friesian horse population, have ongoing conservation projects including collecting large-scale genotype and sequence data. The current reference genome, derived from a Thoroughbred horse can lead to bias in genetic analyses of other horse breeds. Therefore, the aim of this study was to create high-quality breed-specific reference genomes of Dutch Warmblood and Friesian horses.

resultsWe performed nanopore long-read sequencing (R10.4, Q20+) of an F1 cross between a Dutch Warmblood horse and a Friesian horse to create two breed-specific reference genomes by trio binning. This resulted in high-quality, haplotype-resolved reference genomes with contig N50 of 37 and 35 Mb and single copy gene completeness of 99.2 and 99.3% for the Friesian and Warmblood, respectively. The majority of the chromosomes contained telomeric and /or centromeric sequences. The Ensembl gene annotation resulted in 19,750 and 19,872 protein coding genes for the Friesian and Warmblood, respectively. No large chromosomal rearrangements were observed between the Friesian and Warmblood genomes. However, a total of 722 large structural variations (> 10 kb) were identified, of which 14 affect the coding sequence of protein-coding genes.

conclusionThe novel breed-specific reference genomes provide a valuable resource for future genetic analysis and breed conservation efforts and will contribute to ongoing equine pangenome efforts.

Indexed as

Genetic VariationHaplotypesHorsesSequence Analysis, DNAAnimalsBreedingCentromereGenetic CodeGenomeMolecular Sequence AnnotationReference StandardsBreed-specificFriesian horseHaplotype-resolvedReference genomeTrio binningWarmblood horse

Identifiers

PMID40890628
PMCPMC12400632

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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.