scholarly journals A Comparison of Multifactor Dimensionality Reduction and L1-Penalized Regression to Identify Gene-Gene Interactions in Genetic Association Studies

Author(s):  
Stacey Winham ◽  
Chong Wang ◽  
Alison A Motsinger-Reif

Recently, the amount of high-dimensional data has exploded, creating new analytical challenges for human genetics. Furthermore, much evidence suggests that common complex diseases may be due to complex etiologies such as gene-gene interactions, which are difficult to identify in high-dimensional data using traditional statistical approaches. Data-mining approaches are gaining popularity for variable selection in association studies, and one of the most commonly used methods to evaluate potential gene-gene interactions is Multifactor Dimensionality Reduction (MDR). Additionally, a number of penalized regression techniques, such as Lasso, are gaining popularity within the statistical community and are now being applied to association studies, including extensions for interactions. In this study, we compare the performance of MDR, the traditional lasso with L1 penalty (TL1), and the group lasso for categorical data with group-wise L1 penalty (GL1) to detect gene-gene interactions through a broad range of simulations.We find that each method has both advantages and disadvantages, and relative performance is context dependent. TL1 frequently over-fits, identifying false positive as well as true positive loci. MDR has higher power for epistatic models that exhibit independent main effects; for both Lasso methods, main effects tend to dominate. For purely epistatic models, GL1 has the best performance for lower minor allele frequencies, but MDR performs best for higher frequencies. These results provide guidance of when each approach might be best suited for detecting and characterizing interactions with different mechanisms.

2015 ◽  
Vol 2015 ◽  
pp. 1-7 ◽  
Author(s):  
Seungyeoun Lee ◽  
Yongkang Kim ◽  
Min-Seok Kwon ◽  
Taesung Park

Genome-wide association studies (GWAS) have extensively analyzed single SNP effects on a wide variety of common and complex diseases and found many genetic variants associated with diseases. However, there is still a large portion of the genetic variants left unexplained. This missing heritability problem might be due to the analytical strategy that limits analyses to only single SNPs. One of possible approaches to the missing heritability problem is to consider identifying multi-SNP effects or gene-gene interactions. The multifactor dimensionality reduction method has been widely used to detect gene-gene interactions based on the constructive induction by classifying high-dimensional genotype combinations into one-dimensional variable with two attributes of high risk and low risk for the case-control study. Many modifications of MDR have been proposed and also extended to the survival phenotype. In this study, we propose several extensions of MDR for the survival phenotype and compare the proposed extensions with earlier MDR through comprehensive simulation studies.


2015 ◽  
Vol 2015 ◽  
pp. 1-12 ◽  
Author(s):  
Sai Kiranmayee Samudrala ◽  
Jaroslaw Zola ◽  
Srinivas Aluru ◽  
Baskar Ganapathysubramanian

Dimensionality reduction refers to a set of mathematical techniques used to reduce complexity of the original high-dimensional data, while preserving its selected properties. Improvements in simulation strategies and experimental data collection methods are resulting in a deluge of heterogeneous and high-dimensional data, which often makes dimensionality reduction the only viable way to gain qualitative and quantitative understanding of the data. However, existing dimensionality reduction software often does not scale to datasets arising in real-life applications, which may consist of thousands of points with millions of dimensions. In this paper, we propose a parallel framework for dimensionality reduction of large-scale data. We identify key components underlying the spectral dimensionality reduction techniques, and propose their efficient parallel implementation. We show that the resulting framework can be used to process datasets consisting of millions of points when executed on a 16,000-core cluster, which is beyond the reach of currently available methods. To further demonstrate applicability of our framework we perform dimensionality reduction of 75,000 images representing morphology evolution during manufacturing of organic solar cells in order to identify how processing parameters affect morphology evolution.


2020 ◽  
Vol 49 (3) ◽  
pp. 421-437
Author(s):  
Genggeng Liu ◽  
Lin Xie ◽  
Chi-Hua Chen

Dimensionality reduction plays an important role in the data processing of machine learning and data mining, which makes the processing of high-dimensional data more efficient. Dimensionality reduction can extract the low-dimensional feature representation of high-dimensional data, and an effective dimensionality reduction method can not only extract most of the useful information of the original data, but also realize the function of removing useless noise. The dimensionality reduction methods can be applied to all types of data, especially image data. Although the supervised learning method has achieved good results in the application of dimensionality reduction, its performance depends on the number of labeled training samples. With the growing of information from internet, marking the data requires more resources and is more difficult. Therefore, using unsupervised learning to learn the feature of data has extremely important research value. In this paper, an unsupervised multilayered variational auto-encoder model is studied in the text data, so that the high-dimensional feature to the low-dimensional feature becomes efficient and the low-dimensional feature can retain mainly information as much as possible. Low-dimensional feature obtained by different dimensionality reduction methods are used to compare with the dimensionality reduction results of variational auto-encoder (VAE), and the method can be significantly improved over other comparison methods.


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