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RESEARCH ARTICLE

A comprehensive comparison of high-density SNP panels and an alternative ultra-high-density panel for genomic analyses in Nellore cattle

Ricardo V. Ventura A B C K , Luiz F. Brito A D , Gerson A. Oliveira Junior A J , Hans D. Daetwyler E F , Flavio S. Schenkel A , Mehdi Sargolzaei G , Gordon Vandervoort A B , Fabyano Fonseca e Silva H , Stephen P. Miller A I , Minos E. Carvalho J , Miguel H. A. Santana J , Elisangela C. Mattos J , Pablo Fonseca A , Joanir P. Eler J and Jose Bento Sterman Ferraz J
+ Author Affiliations
- Author Affiliations

A Centre for Genetic Improvement of Livestock, Department of Animal Biosciences, University of Guelph, 1 Stone Road West, Guelph, Ontario, N1G 2W1, Canada.

B AgSights, 294 Mill St East, Suite 209, Elora, N0B 1S0 Ontario, Canada.

C Department of Animal Nutrition and Production, School of Veterinary Medicine and Animal Science, University of São Paulo, Pirassununga, São Paulo, 13635-900, Brazil.

D Department of Animal Sciences, Purdue University, 270 S. Russell Street, West Lafayette, Indiana, 47907, USA.

E Agriculture Victoria, AgriBio, Centre for AgriBioscience, Bundoora, Vic. 3083, Australia.

F School of Applied Systems Biology, La Trobe University, Bundoora, Vic. 3086, Australia.

G Select Sires Inc., Plain City, Ohio, 43064, USA

H Department of Animal Science, Universidade Federal de Vicosa, Vicosa, Minas Gerais, 36570-900, Brazil.

I Angus Genetics Inc., 3201 Frederick Avenue, Saint Joseph, St Joseph, Missouri, 64506, USA.

J Department of Veterinary Medicine, School of Animal Science and Food Engineering, University of São Paulo, Pirassununga, São Paulo, 13635-900, Brazil.

K Corresponding author. Email: rvventura@usp.br

Animal Production Science 60(3) 333-346 https://doi.org/10.1071/AN18305
Submitted: 13 May 2018  Accepted: 11 June 2019   Published: 23 December 2019

Abstract

There is evidence that some genotyping platforms might not work very well for Zebu cattle when compared with Taurine breeds. In addition, the availability of panels with low to moderate number of overlapping markers is a limitation for combining datasets for genomic evaluations, especially when animals are genotyped using different SNP panels. In the present study, we compared the performance of medium- and high-density (HD) commercially available panels and investigated the feasibility of developing an ultra-HD panel (SP) containing markers from an Illumina (HD_I) and an Affymetrix (HD_A) panels. The SP panel contained 1 123 442 SNPs. After performing SNP pruning on the basis of linkage disequilibrium, HD_A, HD_I and SP contained 429 624, 365 225 and 658 770 markers distributed across the whole genome. The overall mean proportion of markers pruned out per chromosome for HD_A, HD_I and SP was 15.17%, 43.18%, 38.63% respectively. The HD_I panel presented the highest mean number of runs-of-homozygosity segments per animal (45.48%, an increment of 5.11% compared with SP) and longer segments, on average (3057.95 kb per segment), than did both HD_A and SP. HD_I also showed the highest mean number of SNPs per run-of-homozygosity segment. Consequently, the majority of animals presented the highest genomic inbreeding levels when genotyped using HD_I. The visual examination of marker distribution along the genome illustrated uncovered regions among the different panels. Haplotype-block comparison among panels and the average haplotype size constructed on the basis of HD_A were smaller than those from HD_I. The average number of SNPs per haplotype was different between HD_A and HD_I. Both HD_A and HD_I panels achieved high imputation accuracies when used as the lower-density panels for imputing to SP. However, imputation accuracy from HD_A to SP was greater than was imputation from HD_I to SP. Imputation from one HD panel to the other is also feasible. Low- and medium-density panels, composed of markers that are subsets of both HD_A and HD_I panels, should be developed to achieve better imputation accuracies to both HD levels. Therefore, the genomic analyses performed in the present study showed significant differences among the SNP panels used.

Additional keywords: imputation, LD pruning, run of homozygosity, SNP array, SNP chip development.


References

Barrett JC, Cardon LR (2006) Evaluating coverage of genome-wide association studies. Nature Genetics 38, 659–662.
Evaluating coverage of genome-wide association studies.Crossref | GoogleScholarGoogle Scholar | 16715099PubMed |

Berry DP, O’brien A, Wall E, McDermott K, Randles S, Flynn P, Park S, Grose J, Weld R, McHugh N (2016) Inter- and intra-reproducibility of genotypes from sheep technical replicates on Illumina and Affymetrix platforms. Genetics, Selection, Evolution 48, 86
Inter- and intra-reproducibility of genotypes from sheep technical replicates on Illumina and Affymetrix platforms.Crossref | GoogleScholarGoogle Scholar | 27832740PubMed |

Boichard D, Chung H, Dassonneville R, David X, Eggen A, Fritz S, Gietzen KJ, Hayes BJ, Lawley CT, Sonstegard TS (2012) Design of a bovine low-density SNP array optimized for imputation. PLoS One 7, e34130
Design of a bovine low-density SNP array optimized for imputation.Crossref | GoogleScholarGoogle Scholar | 23152852PubMed |

Calus M, Bouwman A, Hickey J, Veerkamp R, Mulder H (2014) Evaluation of measures of correctness of genotype imputation in the context of genomic prediction: a review of livestock applications. Animal 8, 1743–1753.
Evaluation of measures of correctness of genotype imputation in the context of genomic prediction: a review of livestock applications.Crossref | GoogleScholarGoogle Scholar | 25045914PubMed |

Carvalheiro R, Boison SA, Neves HH, Sargolzaei M, Schenkel FS, Utsunomiya YT, O’Brien AMP, Sölkner J, McEwan JC, Van Tassell CP (2014) Accuracy of genotype imputation in Nelore cattle. Genetics, Selection, Evolution 46, 69
Accuracy of genotype imputation in Nelore cattle.Crossref | GoogleScholarGoogle Scholar | 25927950PubMed |

Cesar AS, Regitano LC, Mourão GB, Tullio RR, Lanna DP, Nassu RT, Mudado MA, Oliveira PS, do Nascimento ML, Chaves AS (2014) Genome-wide association study for intramuscular fat deposition and composition in Nellore cattle. BMC Genetics 15, 39
Genome-wide association study for intramuscular fat deposition and composition in Nellore cattle.Crossref | GoogleScholarGoogle Scholar | 24666668PubMed |

Curik I, Ferenčaković M, Sölkner J (2014) Inbreeding and runs of homozygosity: a possible solution to an old problem. Livestock Science 166, 26–34.
Inbreeding and runs of homozygosity: a possible solution to an old problem.Crossref | GoogleScholarGoogle Scholar |

da Silva JM, Giachetto PF, da Silva LO, Cintra LC, Paiva SR, Yamagishi MEB, Caetano AR (2016) Genome-wide copy number variation (CNV) detection in Nelore cattle reveals highly frequent variants in genome regions harboring QTLs affecting production traits. BMC Genomics 17, 454
Genome-wide copy number variation (CNV) detection in Nelore cattle reveals highly frequent variants in genome regions harboring QTLs affecting production traits.Crossref | GoogleScholarGoogle Scholar | 27297173PubMed |

Elsik CG, Tellam RL, Worley KC (2009) The genome sequence of taurine cattle: a window to ruminant biology and evolution. Science 324, 522–528.
The genome sequence of taurine cattle: a window to ruminant biology and evolution.Crossref | GoogleScholarGoogle Scholar | 19390049PubMed |

Espigolan R, Baldi F, Boligon AA, Souza FR, Gordo DG, Tonussi RL, Cardoso DF, Oliveira HN, Tonhati H, Sargolzaei M (2013) Study of whole genome linkage disequilibrium in Nellore cattle. BMC Genomics 14, 305
Study of whole genome linkage disequilibrium in Nellore cattle.Crossref | GoogleScholarGoogle Scholar | 23642139PubMed |

Gunderson KL, Steemers FJ, Lee G, Mendoza LG, Chee MS (2005) A genome-wide scalable SNP genotyping assay using microarray technology. Nature Genetics 37, 549–554.
A genome-wide scalable SNP genotyping assay using microarray technology.Crossref | GoogleScholarGoogle Scholar | 15838508PubMed |

Harris BL, Johnson DL (2010) The impact of high density SNP chips on genomic evaluation in dairy cattle. Interbull Bulletins 2010, 40–43.

Khatkar MS, Moser G, Hayes BJ, Raadsma HW (2012) Strategies and utility of imputed SNP genotypes for genomic analysis in dairy cattle. BMC Genomics 13, 538
Strategies and utility of imputed SNP genotypes for genomic analysis in dairy cattle.Crossref | GoogleScholarGoogle Scholar | 23043356PubMed |

Kim KK, Won HH, Cho SS, Park JH, Kim MJ, Kim S, Kim JW (2009) Comparison of identical single nucleotide polymorphisms genotyped by the GeneChip Targeted Genotyping 25K, Affymetrix 500K and Illumina 550K platforms. Genomics 94, 89–93.
Comparison of identical single nucleotide polymorphisms genotyped by the GeneChip Targeted Genotyping 25K, Affymetrix 500K and Illumina 550K platforms.Crossref | GoogleScholarGoogle Scholar | 19394417PubMed |

Matukumalli LK, Lawley CT, Schnabel RD, Taylor JF, Allan MF, Heaton MP, O’connell J, Moore SS, Smith TP, Sonstegard TS (2009) Development and characterization of a high density SNP genotyping assay for cattle. PLoS One 4, e5350
Development and characterization of a high density SNP genotyping assay for cattle.Crossref | GoogleScholarGoogle Scholar | 19390634PubMed |

Matukumalli L, Schroeder S, DeNise S, Sonstegard T, Lawley C, Georges M, Coppieters W, Gietzen K, Medrano J, Rincon G (2011) ‘Analyzing LD blocks and CNV segments in cattle: novel genomic features identified using the BovineHD BeadChip.’ (Illumina Inc.: San Diego, CA)

Moghaddar N, Swan AA, Van Der Werf JH (2017) Genomic prediction from observed and imputed high-density ovine genotypes. Genetics, Selection, Evolution. 49, 40
Genomic prediction from observed and imputed high-density ovine genotypes.Crossref | GoogleScholarGoogle Scholar | 28427324PubMed |

Neves HH, Carvalheiro R, O’brien AMP, Utsunomiya YT, Do Carmo AS, Schenkel FS, Sölkner J, McEwan JC, Van Tassell CP, Cole JB (2014) Accuracy of genomic predictions in Bos indicus (Nellore) cattle. Genetics, Selection, Evolution 46, 17
Accuracy of genomic predictions in Bos indicus (Nellore) cattle.Crossref | GoogleScholarGoogle Scholar | 24575732PubMed |

Nothnagel M, Lu TT, Kayser M, Krawczak M (2010) Genomic and geographic distribution of SNP-defined runs of homozygosity in Europeans. Human Molecular Genetics 19, 2927–2935.
Genomic and geographic distribution of SNP-defined runs of homozygosity in Europeans.Crossref | GoogleScholarGoogle Scholar | 20462934PubMed |

Pemberton TJ, Absher D, Feldman MW, Myers RM, Rosenberg NA, Li JZ (2012) Genomic patterns of homozygosity in worldwide human populations. American Journal of Human Genetics 91, 275–292.
Genomic patterns of homozygosity in worldwide human populations.Crossref | GoogleScholarGoogle Scholar | 22883143PubMed |

O’Brien AMP, Mészáros G, Utsunomiya YT, Sonstegard TS, Garcia JF, Van Tassell CP, Carvalheiro R, da Silva MV, Sölkner J (2014) Linkage disequilibrium levels in Bos indicus and Bos taurus cattle using medium and high density SNP chip data and different minor allele frequency distributions. Livestock Science 166, 121–132.

Peripolli E, Munari DP, Silva MVGB, Lima ALF, Irgang R, Baldi F (2017) Runs of homozygosity: current knowledge and applications in livestock. Animal Genetics 48, 255–271.

Peripolli E, Stafuzza NB, Munari DP, Lima ALF, Irgang R, Machado MA, do Carmo Panetto JC, Ventura RV, Baldi F, da Silva MVGB (2018) Assessment of runs of homozygosity islands and estimates of genomic inbreeding in gyr (Bos indicus) dairy cattle. BMC Genomics 19, 34
Assessment of runs of homozygosity islands and estimates of genomic inbreeding in gyr (Bos indicus) dairy cattle.Crossref | GoogleScholarGoogle Scholar | 29316879PubMed |

Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, De Bakker PI, Daly MJ (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. American Journal of Human Genetics 81, 559–575.
PLINK: a tool set for whole-genome association and population-based linkage analyses.Crossref | GoogleScholarGoogle Scholar | 17701901PubMed |

Rincon G, Weber K, Van Eenennaam A, Golden B, Medrano J (2011) Hot topic: performance of bovine high-density genotyping platforms in Holsteins and Jerseys. Journal of Dairy Science 94, 6116–6121.
Hot topic: performance of bovine high-density genotyping platforms in Holsteins and Jerseys.Crossref | GoogleScholarGoogle Scholar | 22118099PubMed |

Sargolzaei M, Chesnais JP, Schenkel FS (2014) A new approach for efficient genotype imputation using information from relatives. BMC Genomics 15, 478
A new approach for efficient genotype imputation using information from relatives.Crossref | GoogleScholarGoogle Scholar | 24935670PubMed |

Somavilla AL, Sonstegard T, Higa R, Rosa A, Siqueira F, Silva L, Torres R, Coutinho L, Mudadu M, Alencar M (2014) A genome‐wide scan for selection signatures in Nellore cattle. Animal Genetics 45, 771–781.
A genome‐wide scan for selection signatures in Nellore cattle.Crossref | GoogleScholarGoogle Scholar | 25183526PubMed |

Steemers FJ, Chang W, Lee G, Barker DL, Shen R, Gunderson KL (2006) Whole-genome genotyping with the single-base extension assay. Nature Methods 3, 31–33.
Whole-genome genotyping with the single-base extension assay.Crossref | GoogleScholarGoogle Scholar | 16369550PubMed |

Utsunomiya YT, Do Carmo AS, Carvalheiro R, Neves HH, Matos MC, Zavarez LB, Pérez O’Brien AM, Sölkner J, McEwan JC, Cole JB (2013) Genome-wide association study for birth weight in Nellore cattle points to previously described orthologous genes affecting human and bovine height. BMC Genetics 14, 52
Genome-wide association study for birth weight in Nellore cattle points to previously described orthologous genes affecting human and bovine height.Crossref | GoogleScholarGoogle Scholar | 23758625PubMed |

VanRaden PM (2008) Efficient methods to compute genomic predictions. Journal of Dairy Science 91, 4414–4423.
Efficient methods to compute genomic predictions.Crossref | GoogleScholarGoogle Scholar | 18946147PubMed |

VanRaden PM, Null DJ, Sargolzaei M, Wiggans GR, Tooker ME, Cole JB, Sonstegard TS, Connor EE, Winters M, Van Kaam J, Valentini A (2013) Genomic imputation and evaluation using high-density Holstein genotypes. Journal of Dairy Science 96, 668–678.
Genomic imputation and evaluation using high-density Holstein genotypes.Crossref | GoogleScholarGoogle Scholar | 23063157PubMed |

VanRaden PM, Sun C, O’Connell JR (2015) Fast imputation using medium or low-coverage sequence data. BMC Genetics 16, 82
Fast imputation using medium or low-coverage sequence data.Crossref | GoogleScholarGoogle Scholar | 26168789PubMed |

Ventura RV, Miller SP, Dodds KG, Auvray B, Lee M, Bixley M, Clarke SM, McEwan JC (2016) Assessing accuracy of imputation using different SNP panel densities in a multi-breed sheep population. Genetics, Selection, Evolution 48, 71
Assessing accuracy of imputation using different SNP panel densities in a multi-breed sheep population.Crossref | GoogleScholarGoogle Scholar | 27663120PubMed |

Wang Y, Lin G, Li C, Stothard P (2017) Genotype imputation methods and their effects on genomic predictions in cattle. Springer Science Reviews 2, 79–98.

Zavarez LB, Utsunomiya YT, Carmo AS, Neves HH, Carvalheiro R, Ferenčaković M, O’Brien AMP, Curik I, Cole JB, Van Tassell CP (2015) Assessment of autozygosity in Nellore cows (Bos indicus) through high-density SNP genotypes. Frontiers in Genetics 6,
Assessment of autozygosity in Nellore cows (Bos indicus) through high-density SNP genotypes.Crossref | GoogleScholarGoogle Scholar | 25688258PubMed |

Zhou Y, Utsunomiya YT, Xu L, Bickhart DM, Alexandre PA, Rosen BD, Schroeder SG, Carvalheiro R, de Rezende Neves HH, Sonstegard TS (2016) Genome-wide CNV analysis reveals variants associated with growth traits in Bos indicus. BMC Genomics 17, 419
Genome-wide CNV analysis reveals variants associated with growth traits in Bos indicus.Crossref | GoogleScholarGoogle Scholar | 27245577PubMed |