Dataset Information

IntAssoPlot: An R Package for Integrated Visualization of Genome-Wide Association Study Results With Gene Structure and Linkage Disequilibrium Matrix.

ABSTRACT: Genome-wide association study (GWAS), exploring the historical and evolutionary recombinations at the population level, is a major method adopted to identify quantitative trait loci (QTL) for complex traits. However, to summarize GWAS results, gene structure, and linkage disequilibrium (LD) in a single view, multiple tools are required. It is tedious to generate these three results and manually put them together; moreover, it may eventually lead to inaccuracies. On the other hand, genotype markers are usually detected by DNA- and/or RNA-Seq. For GWAS analysis based on RNA-Seq, markers from DNA-Seq provide more genetic information when displaying LD. The currently released software package does not have this function for an integrated analysis of LD, using genotypic markers different from that in association analysis. Here, we present an R package, IntAssoPlot, which provides an integrated visual display of GWAS results, along with LD and gene structure information, in a publication-ready format. The main panel of an IntAssoPlot plot has a connecting line linking the genome-wide association P-values on the -log10 scale with the gene structure and LD matrix. Importantly, IntAssoPlot is designed to plot GWAS results with LD calculated from genotypes different from those in GWAS analysis. IntAssoPlot provides a powerful visualization tool to gain an integrated insight into GWAS results. The functions provided by IntAssoPlot increase the efficiency by revealing GWAS results in a publication-ready format. Inspection of the output image can provide important biological information, including the loci that passed the genome-wide significance threshold, genes located at or near the significant loci, and the extent of LD within the selected region.

SUBMITTER: He F

PROVIDER: S-EPMC7100855 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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IntAssoPlot: An R Package for Integrated Visualization of Genome-Wide Association Study Results With Gene Structure and Linkage Disequilibrium Matrix.

He Fengyu F Ding Shuangcheng S Wang Hongwei H Qin Feng F

Frontiers in genetics 20200320

Genome-wide association study (GWAS), exploring the historical and evolutionary recombinations at the population level, is a major method adopted to identify quantitative trait loci (QTL) for complex traits. However, to summarize GWAS results, gene structure, and linkage disequilibrium (LD) in a single view, multiple tools are required. It is tedious to generate these three results and manually put them together; moreover, it may eventually lead to inaccuracies. On the other hand, genotype marke ...[more]

PMID: 32265990

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Project description:BACKGROUND:The ideal malaria parasite populations for initial mapping of genomic regions contributing to phenotypes such as drug resistance and virulence, through genome-wide association studies, are those with high genetic diversity, allowing for numerous informative markers, and rare meiotic recombination, allowing for strong linkage disequilibrium (LD) between markers and phenotype-determining loci. However, levels of genetic diversity and LD in field populations of the major human malaria parasite P. vivax remain little characterized. RESULTS:We examined single-nucleotide polymorphisms (SNPs) and LD patterns across a 100-kb chromosome segment of P. vivax in 238 field isolates from areas of low to moderate malaria endemicity in South America and Asia, where LD tends to be more extensive than in holoendemic populations, and in two monkey-adapted strains (Salvador-I, from El Salvador, and Belem, from Brazil). We found varying levels of SNP diversity and LD across populations, with the highest diversity and strongest LD in the area of lowest malaria transmission. We found several clusters of contiguous markers with rare meiotic recombination and characterized a relatively conserved haplotype structure among populations, suggesting the existence of recombination hotspots in the genome region analyzed. Both silent and nonsynonymous SNPs revealed substantial between-population differentiation, which accounted for ~40% of the overall genetic diversity observed. Although parasites clustered according to their continental origin, we found evidence for substructure within the Brazilian population of P. vivax. We also explored between-population differentiation patterns revealed by loci putatively affected by natural selection and found marked geographic variation in frequencies of nucleotide substitutions at the pvmdr-1 locus, putatively associated with drug resistance. CONCLUSION:These findings support the feasibility of genome-wide association studies in carefully selected populations of P. vivax, using relatively low densities of markers, but underscore the risk of false positives caused by population structure at both local and regional levels.

Dataset Information

IntAssoPlot: An R Package for Integrated Visualization of Genome-Wide Association Study Results With Gene Structure and Linkage Disequilibrium Matrix.

Publications

IntAssoPlot: An R Package for Integrated Visualization of Genome-Wide Association Study Results With Gene Structure and Linkage Disequilibrium Matrix.

Similar Datasets

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