Population size in QTL detection using quantile regression in genome-wide association studies.

The aim of this study was to evaluate the performance of Quantile Regression (QR) in Genome-Wide Association Studies (GWAS) regarding the ability to detect QTLs (Quantitative Trait Locus) associated with phenotypic traits of interest, considering different population sizes. For this, simulated data was used, with traits of different levels of heritability (0.30 and 0.50), and controlled by 3 and 100 QTLs. Populations of 1,000 to 200 individuals were defined, with a random reduction of 100 individuals for each population. The power of detection of QTLs and the false positive rate were obtained by means of QR considering three different quantiles (0.10, 0.50 and 0.90) and also by means of the General Linear Model (GLM). In general, it was observed that the QR models showed greater power of detection of QTLs in all scenarios evaluated and a relatively low false positive rate in scenarios with a greater number of individuals. The models with the highest detection power of true QTLs at the extreme quantils (0.10 and 0.90) were the ones with the highest detection power of true QTLs. In contrast, the analysis based on the GLM detected few (scenarios with larger population size) or no QTLs in the evaluated scenarios. In the scenarios with low heritability, QR obtained a high detection power. Thus, it was verified that the use of QR in GWAS is effective, allowing the detection of QTLs associated with traits of interest even in scenarios with few genotyped and phenotyped individuals.

Marker effects and heritability estimates using additive-dominance genomic architectures via artificial neural networks in Coffea canephora.

Many methodologies are used to predict the genetic merit in animals and plants, but some of them require priori assumptions that may increase the complexity of the model. Artificial neural network (ANN) has advantage to not require priori assumptions about the relationships between inputs and the output allowing great flexibility to handle different types of complex non-additive effects, such as dominance and epistasis. Despite this advantage, the biological interpretability of ANNs is still limited. The aim of this research was to estimate the heritability and markers effects for two traits in Coffea canephora using an additive-dominance architecture ANN and to compare it with genomic best linear unbiased prediction (GBLUP). The data used consists of 51 clones of C. canephora varietal Conilon, 32 of varietal group Robusta and 82 intervarietal hybrids. From this, 165 phenotyped individuals were genotyped for 14,387 SNPs. Due to the high computational cost of ANNs, we used Bagging decision tree to reduce the dimensionality of the data, selecting the markers that accumulated 70% of the total importance. An ANN with three hidden layers was run, each varying from 1 to 40 neurons summing 64,000 neural networks. The network architectures with the best predictive ability were selected. The best architectures were composed by 4, 15, and 33 neurons in the first, second and third hidden layers, respectively, for yield, and by 13, 20, and 24 neurons, respectively for rust resistance. The predictive ability was greater when using ANN with three hidden layers than using one hidden layer and GBLUP, with 0.72 and 0.88 for yield and coffee leaf rust resistance, respectively. The concordance rate (CR) of the 10% larger markers effects among the methods varied between 10% and 13.8%, for additive effects and between 5.4% and 11.9% for dominance effects. The narrow-sense ([Formula: see text]) and dominance-only ([Formula: see text]) heritability estimates were 0.25 and 0.06, respectively, for yield, and 0.67 and 0.03, respectively for rust resistance. The ANN was able to estimate the heritabilities from an additive-dominance genomic architectures and the ANN with three hidden layers obtained best predictive ability when compared with those obtained from GBLUP and ANN with one hidden layer.