Abstract
The advent of high-throughput next-generation sequencing technologies in the last decade, coupled with its substantial decrease in cost in the recent years and development of complementary array-based genotyping platforms, has revolutionized the generation of genome-wide markers and propelled several statistical methods for unearthing marker-phenotype association. This chapter provides an outline of the conceptual principles and steps of methods widely used for genome-wide association studies (GWAS) in cereals. Specifically, we focussed on presenting practical steps, starting from assembling populations suitable for phenotyping, genotyping platforms, estimation of population structure from genome-wide markers, estimation of linkage disequilibrium (LD), and methods of GWAS. We also highlighted the available sources of cereal genome assemblies and major software packages used for GWAS, namely, TASSEL-5.0, PLINK, and GAPIT-3.0.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Similar content being viewed by others
References
Cockram J, Mackay I (2018) Genetic mapping populations for conducting high-resolution trait mapping in plants. In: Varshney RK, Pandey MK, Chitikineni A (eds) Plant genetics and molecular biology. Springer International Publishing, Cham, pp 109–138
Scott MF, Ladejobi O, Amer S, Bentley AR, Biernaskie J, Boden SA, Clark M, Dell’Acqua M, Dixon LE, Filippi CV, Fradgley N, Gardner KA, Mackay IJ, O’Sullivan D, Percival-Alwyn L, Roorkiwal M, Singh RK, Thudi M, Varshney RK, Venturini L, Whan A, Cockram J, Mott R (2020) Multi-parent populations in crops: a toolbox integrating genomics and genetic mapping with breeding. Heredity 125(6):396–416
Voichek Y, Weigel D (2020) Identifying genetic variants underlying phenotypic variation in plants without complete genomes. Nat Genet 52(5):534–540
Singh S, Sehgal D, Kumar S, Arif MAR, Vikram P, Sansaloni CP, Fuentes-Dávila G, Ortiz C (2020) GWAS revealed a novel resistance locus on chromosome 4D for the quarantine disease Karnal bunt in diverse wheat pre-breeding germplasm. Sci Rep 10(1):5999
Sehgal D, Rosyara U, Mondal S, Singh R, Poland J, Dreisigacker S (2020) Incorporating genome-wide association mapping results into genomic prediction models for grain yield and yield stability in CIMMYT spring bread wheat. Front Plant Sci 11:197
Winfield MO, Allen AM, Burridge AJ, Barker GLA, Benbow HR, Wilkinson PA, Coghill J, Waterfall C, Davassi A, Scopes G, Pirani A, Webster T, Brew F, Bloor C, King J, West C, Griffiths S, King I, Bentley AR, Edwards KJ (2016) High-density SNP genotyping array for hexaploid wheat and its secondary and tertiary gene pool. Plant Biotechnol J 14(5):1195–1206
Li H, Durbin R (2009) Fast and accurate short read alignment with burrows-wheeler transform. Bioinformatics 25(14):1754–1760
Langmead B, Salzberg S (2013) Bowtie2. Nat Methods 9:357–359
Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, Marth G, Abecasis G, Durbin R (2009) The sequence alignment/map format and SAMtools. Bioinformatics 25(16):2078–2079
Van der Auwera GA, Carneiro MO, Hartl C, Poplin R, del Angel G, Levy-Moonshine A, Jordan T, Shakir K, Roazen D, Thibault J, Banks E, Garimella KV, Altshuler D, Gabriel S, DePristo MA (2013) From FastQ data to high-confidence variant calls: the genome analysis toolkit best practices pipeline. Curr Protoc Bioinformatics 43(1):11.10.11–11.10.33
Torkamaneh D, Laroche J, Belzile F (2020) Fast-GBS v2. 0: an analysis toolkit for genotyping-by-sequencing data. Genome 63(11):577–581
Pritchard JK, Stephens M, Rosenberg NA, Donnelly P (2000) Association mapping in structured populations. Am J Hum Genet 67(1):170–181
Evanno G, Regnaut S, Goudet J (2005) Detecting the number of clusters of individuals using the software STRUCTURE: a simulation study. Mol Ecol 14(8):2611–2620
Hammer Ø, Harper D, Ryan P (2013) PAST: paleontological statistics software package for education and data analysis. PAleontological STatistics, PAST, 3.0 the Past of the Future
Bradbury PJ, Zhang Z, Kroon DE, Casstevens TM, Ramdoss Y, Buckler ES (2007) TASSEL: software for association mapping of complex traits in diverse samples. Bioinformatics 23(19):2633–2635
Tang Y, Liu X, Wang J, Li M, Wang Q, Tian F, Su Z, Pan Y, Liu D, Lipka AE, Buckler ES, Zhang Z (2016) GAPIT version 2: an enhanced integrated tool for genomic association and prediction. Plant Genome 9:2. plantgenome2015.2011.0120
Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MAR, Bender D, Maller J, Sklar P, de Bakker PIW, Daly MJ, Sham PC (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81(3):559–575
Zhang Y-W, Tamba CL, Wen Y-J, Li P, Ren W-L, Ni Y-L, Gao J, Zhang Y-M (2020) mrMLM v4.0: an R platform for multi-locus genome-wide association studies. bioRxiv. 2020.2003.2004.976464
Hayes B (2013) Overview of statistical methods for genome-wide association studies (GWAS). In: Gondro C, van der Werf J, Hayes B (eds) Genome-wide association studies and genomic prediction. Humana Press, Totowa, NJ, pp 149–169
Slaten ML, Chan YO, Shrestha V, Lipka AE, Angelovici R (2020) HAPPI GWAS: holistic analysis with pre- and post-integration GWAS. Bioinformatics 36(17):4655–4657
IWGSC, Appels R, Eversole K, Stein N, Feuillet C, Keller B, Rogers J, Pozniak CJ, Choulet F, Distelfeld A, Poland J, Ronen G, Sharpe AG, Barad O, Baruch K, Keeble-Gagnère G, Mascher M, Ben-Zvi G, Josselin A-A, Himmelbach A, Balfourier F, Gutierrez-Gonzalez J, Hayden M, Koh C, Muehlbauer G, Pasam RK, Paux E, Rigault P, Tibbits J, Tiwari V, Spannagl M, Lang D, Gundlach H, Haberer G, Mayer KFX, Ormanbekova D, Prade V, Šimková H, Wicker T, Swarbreck D, Rimbert H, Felder M, Guilhot N, Kaithakottil G, Keilwagen J, Leroy P, Lux T, Twardziok S, Venturini L, Juhász A, Abrouk M, Fischer I, Uauy C, Borrill P, Ramirez-Gonzalez RH, Arnaud D, Chalabi S, Chalhoub B, Cory A, Datla R, Davey MW, Jacobs J, Robinson SJ, Steuernagel B, van Ex F, BBH W, Benhamed M, Bendahmane A, Concia L, Latrasse D, Bartoš J, Bellec A, Berges H, Doležel J, Frenkel Z, Gill B, Korol A, Letellier T, Olsen O-A, Singh K, Valárik M, van der Vossen E, Vautrin S, Weining S, Fahima T, Glikson V, Raats D, Číhalíková J, Toegelová H, Vrána J, Sourdille P, Darrier B, Barabaschi D, Cattivelli L, Hernandez P, Galvez S, Budak H, JDG J, Witek K, Yu G, Small I, Melonek J, Zhou R, Belova T, Kanyuka K, King R, Nilsen K, Walkowiak S, Cuthbert R, Knox R, Wiebe K, Xiang D, Rohde A, Golds T, Čížková J, Akpinar BA, Biyiklioglu S, Gao L, N’Daiye A, Kubaláková M, Šafář J, Alfama F, Adam-Blondon A-F, Flores R, Guerche C, Loaec M, Quesneville H, Condie J, Ens J, Maclachlan R, Tan Y, Alberti A, Aury J-M, Barbe V, Couloux A, Cruaud C, Labadie K, Mangenot S, Wincker P, Kaur G, Luo M, Sehgal S, Chhuneja P, Gupta OP, Jindal S, Kaur P, Malik P, Sharma P, Yadav B, Singh NK, Khurana JP, Chaudhary C, Khurana P, Kumar V, Mahato A, Mathur S, Sevanthi A, Sharma N, Tomar RS, Holušová K, Plíhal O, Clark MD, Heavens D, Kettleborough G, Wright J, Balcárková B, Hu Y, Salina E, Ravin N, Skryabin K, Beletsky A, Kadnikov V, Mardanov A, Nesterov M, Rakitin A, Sergeeva E, Handa H, Kanamori H, Katagiri S, Kobayashi F, Nasuda S, Tanaka T, Wu J, Cattonaro F, Jiumeng M, Kugler K, Pfeifer M, Sandve S, Xun X, Zhan B, Batley J, Bayer PE, Edwards D, Hayashi S, Tulpová Z, Visendi P, Cui L, Du X, Feng K, Nie X, Tong W, Wang L (2018) Shifting the limits in wheat research and breeding using a fully annotated reference genome. Science 361(6403):eaar7191
Li L, Mao X, Wang J, Chang X, Reynolds M, Jing R (2019) Genetic dissection of drought and heat-responsive agronomic traits in wheat. Plant Cell Environ 42(9):2540–2553
Maccaferri M, Harris NS, Twardziok SO, Pasam RK, Gundlach H, Spannagl M, Ormanbekova D, Lux T, Prade VM, Milner SG, Himmelbach A, Mascher M, Bagnaresi P, Faccioli P, Cozzi P, Lauria M, Lazzari B, Stella A, Manconi A, Gnocchi M, Moscatelli M, Avni R, Deek J, Biyiklioglu S, Frascaroli E, Corneti S, Salvi S, Sonnante G, Desiderio F, Marè C, Crosatti C, Mica E, Özkan H, Kilian B, De Vita P, Marone D, Joukhadar R, Mazzucotelli E, Nigro D, Gadaleta A, Chao S, Faris JD, Melo ATO, Pumphrey M, Pecchioni N, Milanesi L, Wiebe K, Ens J, MacLachlan RP, Clarke JM, Sharpe AG, Koh CS, Liang KYH, Taylor GJ, Knox R, Budak H, Mastrangelo AM, Xu SS, Stein N, Hale I, Distelfeld A, Hayden MJ, Tuberosa R, Walkowiak S, Mayer KFX, Ceriotti A, Pozniak CJ, Cattivelli L (2019) Durum wheat genome highlights past domestication signatures and future improvement targets. Nat Genet 51(5):885–895
Sari E, Knox RE, Ruan Y, Henriquez MA, Kumar S, Burt AJ, Cuthbert RD, Konkin DJ, Walkowiak S, Campbell HL, Singh AK, Ross J, Lokuruge P, Hsueh E, Boyle K, Sidebottom C, Condie J, Yates S, Pozniak CJ, Fobert PR (2020) Historic recombination in a durum wheat breeding panel enables high-resolution mapping of fusarium head blight resistance quantitative trait loci. Sci Rep 10(1):7567
Kawahara Y, de la Bastide M, Hamilton JP, Kanamori H, McCombie WR, Ouyang S, Schwartz DC, Tanaka T, Wu J, Zhou S, Childs KL, Davidson RM, Lin H, Quesada-Ocampo L, Vaillancourt B, Sakai H, Lee SS, Kim J, Numa H, Itoh T, Buell CR, Matsumoto T (2013) Improvement of the Oryza sativa Nipponbare reference genome using next generation sequence and optical map data. Rice 6(1):4
Kadam NN, Tamilselvan A, Lawas LMF, Quinones C, Bahuguna RN, Thomson MJ, Dingkuhn M, Muthurajan R, Struik PC, Yin X, Jagadish SVK (2017) Genetic control of plasticity in root morphology and anatomy of rice in response to water deficit. Plant Physiol 174(4):2302–2315
Jiao Y, Peluso P, Shi J, Liang T, Stitzer MC, Wang B, Campbell MS, Stein JC, Wei X, Chin C-S (2017) Improved maize reference genome with single-molecule technologies. Nature 546(7659):524–527
Mayer M, Hölker AC, González-Segovia E, Bauer E, Presterl T, Ouzunova M, Melchinger AE, Schön C-C (2020) Discovery of beneficial haplotypes for complex traits in maize landraces. Nat Commun 11(1):4954
Mascher M, Gundlach H, Himmelbach A, Beier S, Twardziok SO, Wicker T, Radchuk V, Dockter C, Hedley PE, Russell J, Bayer M, Ramsay L, Liu H, Haberer G, Zhang X-Q, Zhang Q, Barrero RA, Li L, Taudien S, Groth M, Felder M, Hastie A, Šimková H, Staňková H, Vrána J, Chan S, Muñoz-Amatriaín M, Ounit R, Wanamaker S, Bolser D, Colmsee C, Schmutzer T, Aliyeva-Schnorr L, Grasso S, Tanskanen J, Chailyan A, Sampath D, Heavens D, Clissold L, Cao S, Chapman B, Dai F, Han Y, Li H, Li X, Lin C, McCooke JK, Tan C, Wang P, Wang S, Yin S, Zhou G, Poland JA, Bellgard MI, Borisjuk L, Houben A, Doležel J, Ayling S, Lonardi S, Kersey P, Langridge P, Muehlbauer GJ, Clark MD, Caccamo M, Schulman AH, Mayer KFX, Platzer M, Close TJ, Scholz U, Hansson M, Zhang G, Braumann I, Spannagl M, Li C, Waugh R, Stein N (2017) A chromosome conformation capture ordered sequence of the barley genome. Nature 544(7651):427–433
Abed A, Belzile F (2019) Comparing single-SNP, multi-SNP, and haplotype-based approaches in association studies for major traits in barley. Plant Genome 12(3):190036
Rabanus-Wallace MT, Hackauf B, Mascher M, Lux T, Wicker T, Gundlach H, Baez M, Houben A, Mayer KFX, Guo L, Poland J, Pozniak CJ, Walkowiak S, Melonek J, Praz CR, Schreiber M, Budak H, Heuberger M, Steuernagel B, Wulff B, Börner A, Byrns B, Čížková J, Fowler DB, Fritz A, Himmelbach A, Kaithakottil G, Keilwagen J, Keller B, Konkin D, Larsen J, Li Q, Myśków B, Padmarasu S, Rawat N, Sesiz U, Biyiklioglu-Kaya S, Sharpe A, Šimková H, Small I, Swarbreck D, Toegelová H, Tsvetkova N, Voylokov AV, Vrána J, Bauer E, Bolibok-Bragoszewska H, Doležel J, Hall A, Jia J, Korzun V, Laroche A, Ma XF, Ordon F, Özkan H, Rakoczy-Trojanowska M, Scholz U, Schulman AH, Siekmann D, Stojałowski S, Tiwari VK, Spannagl M, Stein N (2021) Chromosome-scale genome assembly provides insights into rye biology, evolution and agronomic potential. Nat Genet 53(4):564–573
Paterson AH, Bowers JE, Bruggmann R, Dubchak I, Grimwood J, Gundlach H, Haberer G, Hellsten U, Mitros T, Poliakov A, Schmutz J, Spannagl M, Tang H, Wang X, Wicker T, Bharti AK, Chapman J, Feltus FA, Gowik U, Grigoriev IV, Lyons E, Maher CA, Martis M, Narechania A, Otillar RP, Penning BW, Salamov AA, Wang Y, Zhang L, Carpita NC, Freeling M, Gingle AR, Hash CT, Keller B, Klein P, Kresovich S, McCann MC, Ming R, Peterson DG, Mehboobur R, Ware D, Westhoff P, Mayer KFX, Messing J, Rokhsar DS (2009) The Sorghum bicolor genome and the diversification of grasses. Nature 457(7229):551–556
Zhou Y, Srinivasan S, Mirnezami SV, Kusmec A, Fu Q, Attigala L, Salas Fernandez MG, Ganapathysubramanian B, Schnable PS (2019) Semiautomated feature extraction from rgb images for sorghum panicle architecture GWAS. Plant Physiol 179(1):24–37
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2022 Springer Science+Business Media, LLC, part of Springer Nature
About this protocol
Cite this protocol
Soto-Cerda, B.J., Vasudevan, A., Laroche, A., Ragupathy, R. (2022). Genome-Wide Association Studies (GWAS) in Cereals. In: Bilichak, A., Laurie, J.D. (eds) Accelerated Breeding of Cereal Crops. Springer Protocols Handbooks. Humana, New York, NY. https://doi.org/10.1007/978-1-0716-1526-3_4
Download citation
DOI: https://doi.org/10.1007/978-1-0716-1526-3_4
Published:
Publisher Name: Humana, New York, NY
Print ISBN: 978-1-0716-1525-6
Online ISBN: 978-1-0716-1526-3
eBook Packages: Springer Protocols