Rare CNVs in the bovine genome are not captured well by 50K density genotyping array SNPs

Y.L. Lee, M.C. Bosse, W. Coppieters, R.F. Veerkamp, L. Karim, C. Oget-Ebrad, T. Druet, M.A.M. Groenen, M. Georges, A.C. Bouwman, C. Charlier

Research output: Chapter in Book/Report/Conference proceedingConference paperAcademic

Abstract

Understanding how genomes, particularly genetic variants, instruct animals to develop and function is crucial for animal breeders. Copy number variants (CNVs), the gain or loss of DNA segments, can affect gene expression and alter phenotypes. However, most large-scale genetic analyses in animal breeding use single nucleotide polymorphism (SNP) genotypes from genotyping arrays, and efforts to incorporate CNVs are limited. In theory, variation from CNVs can be captured by SNPs, if they are in high linkage disequilibrium (LD). We evaluated the LD of CNV-SNP pairs in whole genome sequencing and genotyping array data. Our whole genome sequencing data showed that most CNVs have tagging SNPs. However, CNV-SNP pairs from genotyping array data were mostly in low LD, because most CNV-SNP pairs had unmatching allele frequencies. We conclude that most rare CNVs may not be fully captured by genotyping arrays.
Original languageEnglish
Title of host publicationProceedings of 12th World Congress on Genetics Applied to Livestock Production (WCGALP)
Subtitle of host publicationTechnical and species orientated innovations in animal breeding, and contribution of genetics to solving societal challenges
EditorsR.F. Veerkamp, Y. de Haas
Place of PublicationWageningen
PublisherWageningen Academic Publishers
Pages2249-2252
ISBN (Electronic)9789086869404
DOIs
Publication statusPublished - 2022
EventWorld Congress on Genetics Applied to Livestock Production: WCGALP 2022 - Rotterdam, Netherlands
Duration: 3 Jul 20228 Jul 2022

Conference

ConferenceWorld Congress on Genetics Applied to Livestock Production: WCGALP 2022
Country/TerritoryNetherlands
CityRotterdam
Period3/07/228/07/22

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