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.

Analysis of the adaptability of black bean cultivars by means of quantile regression / Análise da adaptabilidade de cultivares de feijão preto por meio de regressão quantílica

ABSTRACT: The aim of this study was to use quantile regression (QR) to characterize the effect of the adaptability parameter throughout the distribution of the productivity variable on black bean cultivars launched by different national research institutes (research centers) over the last 50 years. For this purpose, 40 cultivars developed by Brazilian genetic improvement programs between 1959 and 2013 were used. Initially, QR models were adjusted considering three quantiles (τ = 0.2, 0.5 and 0.8). Subsequently, with the confidence intervals, quantile models τ = 0.2 and 0.8 (QR0.2 and QR0.8) showed differences regarding the parameter of adaptability and average productivity. Finally, by grouping the cultivars into one of the two groups defined from QR0.2 and QR0.8, it was reported that the younger cultivars were associated to the quantile τ = 0.8, i.e., those with higher yields and more responsive conditions indicating that genetic improvement over the last 50 years resulted in an increase in both the productivity and the adaptability of cultivars.

RESUMO: Neste estudo objetivou-se utilizar a regressão quantílica (RQ) para caracterizar o efeito do parâmetro de adaptabilidade ao longo de toda a distribuição da variável produtividade em cultivares de feijão preto lançadas por diferentes instituições nacionais de pesquisa nos últimos 50 anos. Para tanto utilizou-se 40 cultivares desenvolvidas pelos programas brasileiros de melhoramento genético entre os anos de 1959 a 2013. Inicialmente foram ajustados modelos de RQ considerando três quantis (τ=0,2, 0,5, 0,8). Posteriormente, com os intervalos de confiança verificou-se que os modelos quantílicos τ=0,2 e 0,8 (RQ0,2 e RQ0,8) apresentaram diferenças quanto ao parâmetro de adaptabilidade e produtividade média. Finalmente, por meio do agrupamento das cultivares em um dos dois grupos definidos a partir de RQ0,2 e RQ0,8, constatou-se que as cultivares mais novas foram associadas ao quantil τ = 0,8, ou seja, aquelas com maiores produtividades e mais responsivas as condições ambientais indicando que o melhoramento ao longo dos últimos 50 anos possibilitou o incremento tanto na produtividade quanto na adaptabilidade das cultivares.

Independent Component Analysis (ICA) based-clustering of temporal RNA-seq data.

Gene expression time series (GETS) analysis aims to characterize sets of genes according to their longitudinal patterns of expression. Due to the large number of genes evaluated in GETS analysis, an useful strategy to summarize biological functional processes and regulatory mechanisms is through clustering of genes that present similar expression pattern over time. Traditional cluster methods usually ignore the challenges in GETS, such as the lack of data normality and small number of temporal observations. Independent Component Analysis (ICA) is a statistical procedure that uses a transformation to convert raw time series data into sets of values of independent variables, which can be used for cluster analysis to identify sets of genes with similar temporal expression patterns. ICA allows clustering small series of distribution-free data while accounting for the dependence between subsequent time-points. Using temporal simulated and real (four libraries of two pig breeds at 21, 40, 70 and 90 days of gestation) RNA-seq data set we present a methodology (ICAclust) that jointly considers independent components analysis (ICA) and a hierarchical method for clustering GETS. We compare ICAclust results with those obtained for K-means clustering. ICAclust presented, on average, an absolute gain of 5.15% over the best K-means scenario. Considering the worst scenario for K-means, the gain was of 84.85%, when compared with the best ICAclust result. For the real data set, genes were grouped into six distinct clusters with 89, 51, 153, 67, 40, and 58 genes each, respectively. In general, it can be observed that the 6 clusters presented very distinct expression patterns. Overall, the proposed two-step clustering method (ICAclust) performed well compared to K-means, a traditional method used for cluster analysis of temporal gene expression data. In ICAclust, genes with similar expression pattern over time were clustered together.