A Practical Guide to Using Structural Variants for Genome-Wide Association Studies.

Structural variants (SVs) are known to have large functional impacts on phenotypes of agricultural interest, but they have yet to be routinely used for GWAS. Apart from the difficulty in obtaining high-quality SV genotype data for large populations, one of the main hurdles to using SVs for GWAS lies in formatting of genotype data for use with popular GWAS programs. This protocol describes how typical SV genotype data can be formatted for input to three GWAS programs commonly used by the plant genetics community: TASSEL, GAPIT, and mrMLM.

Population Structure and Relatedness for Genome-Wide Association Studies.

The estimation of the population structure and genetic relatedness between individuals within a collection of accessions is important in the formation of core collections for the conservation of genetic resources, uncovering the demographic history of the population under study, as well as for association studies. With the recent development of high-throughput genotyping technologies, several algorithms and methods have been developed and implemented in software to estimate the extent of genetic diversity between individuals. In this chapter, our objective is to describe methods to capture population structure and relatedness in a step-by-step fashion. To exemplify the process, two pruned datasets (14K and 243K SNP markers) were used to investigate population structure and relatedness among a soybean GWAS panel using different approaches and methods.

Genome-wide association identifies several QTLs controlling cysteine and methionine content in soybean seed including some promising candidate genes.

Soybean is an important source of protein, oil and carbohydrates, as well as other beneficial nutrients. A major function of proteins in nutrition is to supply adequate amounts of amino acids. Although they are essential for human nutrition, the sulfur-containing amino acids cysteine (Cys) and methionine (Met) are often limited and the genetic control of their content in soybean seeds is poorly characterized. This study aimed to characterize the phenotypic variation and identify quantitative trait loci (QTL) associated with Cys and Met content in a core set of 137 soybean lines, representative of the genetic diversity among Canadian short-season soybean, spanning maturity groups 000-II (MG000-II). Significant phenotypic differences were found among these lines for Cys, Met and Cys + Met content. Using both a mixed linear model and six multi-locus methods with a catalogue of 2.18 M SNPs, we report a total of nine QTLs and seventeen QTNs of which seven comprise promising candidate genes. This work allowed us to reproducibly detect multiple novel loci associated with sulfur-containing amino acid content. The markers and genes identified in this study may be useful for soybean genetic improvement aiming to increase Cys and Met content.

Identification of loci controlling mineral element concentration in soybean seeds.

BACKGROUND: Mineral nutrients play a crucial role in the biochemical and physiological functions of biological systems. The enhancement of seed mineral content via genetic improvement is considered as the most promising and cost-effective approach compared alternative means for meeting the dietary needs. The overall objective of this study was to perform a GWAS of mineral content (Ca, K, P and S) in seeds of a core set of 137 soybean lines that are representative of the diversity of early maturing soybeans cultivated in Canada (maturity groups 000-II). RESULTS: This panel of 137 soybean lines was grown in five environments (in total) and the seed mineral content was measured using a portable x-ray fluorescence (XRF) spectrometer. The association analyses were carried out using three statistical models and a set of 2.2 million SNPs obtained from a combined dataset of genotyping-by-sequencing and whole-genome sequencing. Eight QTLs significantly associated with the Ca, K, P and S content were identified by at least two of the three statistical models used (in two environments) contributing each from 17 to 31% of the phenotypic variation. A strong reproducibility of the effect of seven out these eight QTLs was observed in three other environments. In total, three candidate genes were identified involved in transport and assimilation of these mineral elements. CONCLUSIONS: There have been very few GWAS studies to identify QTLs associated with the mineral element content of soybean seeds. In addition to being new, the QTLs identified in this study and candidate genes will be useful for the genetic improvement of soybean nutritional quality through marker-assisted selection. Moreover, this study also provides details on the range of phenotypic variation encountered within the Canadian soybean germplasm.