Dataset Information

Genome-wide association studies: assessing trait characteristics in model and crop plants.

ABSTRACT: GWAS involves testing genetic variants across the genomes of many individuals of a population to identify genotype-phenotype association. It was initially developed and has proven highly successful in human disease genetics. In plants genome-wide association studies (GWAS) initially focused on single feature polymorphism and recombination and linkage disequilibrium but has now been embraced by a plethora of different disciplines with several thousand studies being published in model and crop species within the last decade or so. Here we will provide a comprehensive review of these studies providing cases studies on biotic resistance, abiotic tolerance, yield associated traits, and metabolic composition. We also detail current strategies of candidate gene validation as well as the functional study of haplotypes. Furthermore, we provide a critical evaluation of the GWAS strategy and its alternatives as well as future perspectives that are emerging with the emergence of pan-genomic datasets.

SUBMITTER: Alseekh S

PROVIDER: S-EPMC8316211 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature

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Genome-wide association studies: assessing trait characteristics in model and crop plants.

Alseekh Saleh S Kostova Dimitrina D Bulut Mustafa M Fernie Alisdair R AR

Cellular and molecular life sciences : CMLS 20210701 15

GWAS involves testing genetic variants across the genomes of many individuals of a population to identify genotype-phenotype association. It was initially developed and has proven highly successful in human disease genetics. In plants genome-wide association studies (GWAS) initially focused on single feature polymorphism and recombination and linkage disequilibrium but has now been embraced by a plethora of different disciplines with several thousand studies being published in model and crop spe ...[more]

PMID: 34196733

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Project description:BackgroundThe high-throughput genotyping chips have contributed greatly to genome-wide association (GWA) studies to identify novel disease susceptibility single nucleotide polymorphisms (SNPs). The high-density chips are designed using two different SNP selection approaches, the direct gene-centric approach, and the indirect quasi-random SNPs or linkage disequilibrium (LD)-based tagSNPs approaches. Although all these approaches can provide high genome coverage and ascertain variants in genes, it is not clear to which extent these approaches could capture the common genic variants. It is also important to characterize and compare the differences between these approaches.Methodology/principal findingsIn our study, by using both the Phase II HapMap data and the disease variants extracted from OMIM, a gene-centric evaluation was first performed to evaluate the ability of the approaches in capturing the disease variants in Caucasian population. Then the distribution patterns of SNPs were also characterized in genic regions, evolutionarily conserved introns and nongenic regions, ontologies and pathways. The results show that, no mater which SNP selection approach is used, the current high-density SNP chips provide very high coverage in genic regions and can capture most of known common disease variants under HapMap frame. The results also show that the differences between the direct and the indirect approaches are relatively small. Both have similar SNP distribution patterns in these gene-centric characteristics.Conclusions/significanceThis study suggests that the indirect approaches not only have the advantage of high coverage but also are useful for studies focusing on various functional SNPs either in genes or in the conserved regions that the direct approach supports. The study and the annotation of characteristics will be helpful for designing and analyzing GWA studies that aim to identify genetic risk factors involved in common diseases, especially variants in genes and conserved regions.

Dataset Information

Genome-wide association studies: assessing trait characteristics in model and crop plants.

Publications

Genome-wide association studies: assessing trait characteristics in model and crop plants.

Similar Datasets

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