The bootstrap -A review

The bootstrap, extensively studied during the last decade, has become a powerful tool in different areas of Statistical Inference. In this work, we present the main ideas of bootstrap methodology in several contexts, citing the most relevant contributions and illustrating with examples and simulation studies some interesting aspects

A fast algorithm for detecting gene-gene interactions in genome-wide association studies

With the recent advent of high-throughput genotyping techniques, genetic data for genome-wide association studies (GWAS) have become increasingly available, which entails the development of efficient and effective statistical approaches. Although many such approaches have been developed and used to identify single-nucleotide polymorphisms (SNPs) that are associated with complex traits or diseases, few are able to detect gene-gene interactions among different SNPs. Genetic interactions, also known as epistasis, have been recognized to play a pivotal role in contributing to the genetic variation of phenotypic traits. However, because of an extremely large number of SNP-SNP combinations in GWAS, the model dimensionality can quickly become so overwhelming that no prevailing variable selection methods are capable of handling this problem. In this paper, we present a statistical framework for characterizing main genetic effects and epistatic interactions in a GWAS study. Specifically, we first propose a two-stage sure independence screening (TS-SIS) procedure and generate a pool of candidate SNPs and interactions, which serve as predictors to explain and predict the phenotypes of a complex trait. We also propose a rates adjusted thresholding estimation (RATE) approach to determine the size of the reduced model selected by an independence screening. Regularization regression methods, such as LASSO or SCAD, are then applied to further identify important genetic effects. Simulation studies show that the TS-SIS procedure is computationally efficient and has an outstanding finite sample performance in selecting potential SNPs as well as gene-gene interactions. We apply the proposed framework to analyze an ultrahigh-dimensional GWAS data set from the Framingham Heart Study, and select 23 active SNPs and 24 active epistatic interactions for the body mass index variation. It shows the capability of our procedure to resolve the complexity of genetic control.Comment: Published in at http://dx.doi.org/10.1214/14-AOAS771 the Annals of Applied Statistics (http://www.imstat.org/aoas/) by the Institute of Mathematical Statistics (http://www.imstat.org

Testing Conditional Independence in Supervised Learning Algorithms

We propose the conditional predictive impact (CPI), a consistent and unbiased estimator of the association between one or several features and a given outcome, conditional on a reduced feature set. Building on the knockoff framework of Cand\`es et al. (2018), we develop a novel testing procedure that works in conjunction with any valid knockoff sampler, supervised learning algorithm, and loss function. The CPI can be efficiently computed for high-dimensional data without any sparsity constraints. We demonstrate convergence criteria for the CPI and develop statistical inference procedures for evaluating its magnitude, significance, and precision. These tests aid in feature and model selection, extending traditional frequentist and Bayesian techniques to general supervised learning tasks. The CPI may also be applied in causal discovery to identify underlying multivariate graph structures. We test our method using various algorithms, including linear regression, neural networks, random forests, and support vector machines. Empirical results show that the CPI compares favorably to alternative variable importance measures and other nonparametric tests of conditional independence on a diverse array of real and simulated datasets. Simulations confirm that our inference procedures successfully control Type I error and achieve nominal coverage probability. Our method has been implemented in an R package, cpi, which can be downloaded from https://github.com/dswatson/cpi

Model-Based Clustering and Classification of Functional Data

The problem of complex data analysis is a central topic of modern statistical science and learning systems and is becoming of broader interest with the increasing prevalence of high-dimensional data. The challenge is to develop statistical models and autonomous algorithms that are able to acquire knowledge from raw data for exploratory analysis, which can be achieved through clustering techniques or to make predictions of future data via classification (i.e., discriminant analysis) techniques. Latent data models, including mixture model-based approaches are one of the most popular and successful approaches in both the unsupervised context (i.e., clustering) and the supervised one (i.e, classification or discrimination). Although traditionally tools of multivariate analysis, they are growing in popularity when considered in the framework of functional data analysis (FDA). FDA is the data analysis paradigm in which the individual data units are functions (e.g., curves, surfaces), rather than simple vectors. In many areas of application, the analyzed data are indeed often available in the form of discretized values of functions or curves (e.g., time series, waveforms) and surfaces (e.g., 2d-images, spatio-temporal data). This functional aspect of the data adds additional difficulties compared to the case of a classical multivariate (non-functional) data analysis. We review and present approaches for model-based clustering and classification of functional data. We derive well-established statistical models along with efficient algorithmic tools to address problems regarding the clustering and the classification of these high-dimensional data, including their heterogeneity, missing information, and dynamical hidden structure. The presented models and algorithms are illustrated on real-world functional data analysis problems from several application area