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Empirical Comparisons of Different Statistical Models To Identify and Validate Kernel Row Number-Associated Variants from Structured Multi-parent Mapping Populations of Maize

机译:从玉米结构化多亲本群体中识别和验证与内核行数相关的变异的不同统计模型的经验比较

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Advances in next generation sequencing technologies and statistical approaches enable genome-wide dissection of phenotypic traits via genome-wide association studies (GWAS). Although multiple statistical approaches for conducting GWAS are available, the power and cross-validation rates of many approaches have been mostly tested using simulated data. Empirical comparisons of single variant (SV) and multi-variant (MV) GWAS approaches have not been conducted to test if a single approach or a combination of SV and MV is effective, through identification and cross-validation of trait-associated loci. In this study, kernel row number (KRN) data were collected from a set of 6,230 entries derived from the Nested Association Mapping (NAM) population and related populations. Three different types of GWAS analyses were performed: 1) single-variant (SV), 2) stepwise regression (STR) and 3) a Bayesian-based multi-variant (BMV) model. Using SV, STR, and BMV models, 257, 300, and 442 KRN-associated variants (KAVs) were identified in the initial GWAS analyses. Of these, 231 KAVs were subjected to genetic validation using three unrelated populations that were not included in the initial GWAS. Genetic validation results suggest that the three GWAS approaches are complementary. Interestingly, KAVs in low recombination regions were more likely to exhibit associations in independent populations than KAVs in recombinationally active regions, probably as a consequence of linkage disequilibrium. The KAVs identified in this study have the potential to enhance our understanding of the genetic basis of ear development.
机译:下一代测序技术和统计方法的进步使得能够通过全基因组关联研究(GWAS)对全基因型的表型性状进行解剖。尽管可以使用多种统计方法进行GWAS,但大多数方法的功效和交叉验证率已使用模拟数据进行了测试。尚未通过识别和交叉验证与性状相关的基因座,对单变量(SV)和多变量(MV)GWAS方法进行经验比较,以测试单个方法或SV和MV的组合是否有效。在这项研究中,内核行号(KRN)数据是从嵌套关联映射(NAM)种群和相关种群的6,230个条目中收集的。进行了三种不同类型的GWAS分析:1)单变量(SV),2)逐步回归(STR)和3)基于贝叶斯的多变量(BMV)模型。使用SV,STR和BMV模型,在初始GWAS分析中确定了257、300和442个与KRN相关的变体(KAV)。其中,对231架KAV进行了遗传验证,使用了三个不相关的种群,这些种群不包括在最初的GWAS中。遗传验证结果表明,三种GWAS方法是互补的。有趣的是,低重组区的KAVs比重组活跃区的KAVs在独立种群中更可能表现出缔合,这可能是连锁不平衡的结果。在这项研究中确定的KAVs有潜力增进我们对耳朵发育的遗传基础的理解。

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