Abstract

BackgroundParametric feature selection methods for machine learning and association studies based on genetic data are not robust with respect to outliers or influential observations. While rank-based, distribution-free statistics offer a robust alternative to parametric methods, their practical utility can be limited, as they demand significant computational resources when analyzing high-dimensional data. For genetic studies that seek to identify variants, the hypothesis is constrained, since it is typically assumed that the effect of the genotype on the phenotype is monotone (e.g., an additive genetic effect). Similarly, predictors for machine learning applications may have natural ordering constraints. Cross-validation for feature selection in these high-dimensional contexts necessitates highly efficient computational algorithms for the robust evaluation of many features.ResultsWe have developed an R extension package, fastJT, for conducting genome-wide association studies and feature selection for machine learning using the Jonckheere-Terpstra statistic for constrained hypotheses. The kernel of the package features an efficient algorithm for calculating the statistics, replacing the pairwise comparison and counting processes with a data sorting and searching procedure, reducing computational complexity from O(n2) to O(n log(n)). The computational efficiency is demonstrated through extensive benchmarking, and example applications to real data are presented.ConclusionsfastJT is an open-source R extension package, applying the Jonckheere-Terpstra statistic for robust feature selection for machine learning and association studies. The package implements an efficient algorithm which leverages internal information among the samples to avoid unnecessary computations, and incorporates shared-memory parallel programming to further boost performance on multi-core machines.

Highlights

  • Parametric feature selection methods for machine learning and association studies based on genetic data are not robust with respect to outliers or influential observations

  • Feature selection is a critical step in machine learning [1] and association studies based on high-dimensional genetic data

  • We demonstrate a real-world application of our algorithm using data from the CALGB 80303 genome-wide association study (GWAS)

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Summary

Introduction

Parametric feature selection methods for machine learning and association studies based on genetic data are not robust with respect to outliers or influential observations. Results: We have developed an R extension package, fastJT, for conducting genome-wide association studies and feature selection for machine learning using the Jonckheere-Terpstra statistic for constrained hypotheses. Conclusions: fastJT is an open-source R extension package, applying the Jonckheere-Terpstra statistic for robust feature selection for machine learning and association studies. The circles represent individual patient plasma levels three markers from this GWAS These examples underscore the need for inferential methods which are robust to such potentially influential observations. Both parametric and nonparametric methods for feature selection are available. For a general comparison of parametric versus nonparametric methods see [4]

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