Hybrid CPU/GPU Acceleration of Detection of 2-SNP Epistatic Interactions in GWAS

This is a post-peer-review, pre-copyedit version of an article published in Lecture Notes in Computer Science. The final authenticated version is available online at: https://doi.org/10.1007/978-3-319-09873-9_57[Abstract] High-throughput genotyping technologies allow the collection of up to a few million genetic markers (such as SNPs) of an individual within a few minutes of time. Detecting epistasis, such as 2-SNP interactions, in Genome-Wide Association Studies is an important but time consuming operation since statistical computations have to be performed for each pair of measured markers. In this work we present EpistSearch, a parallelized tool that, following the log-linear model approach, uses a novel filter to determine the interactions between all SNP-pairs. Our tool is parallelized using a hybrid combination of Pthreads and CUDA in order to take advantage of CPU/GPU architectures. Experimental results with simulated and real datasets show that EpistSearch outperforms previous approaches, either using GPUs or only CPU cores. For instance, an exhaustive analysis of a real-world dataset with 500,000 SNPs and 5,000 individuals requires less than 42 minutes on a machine with 6 CPU cores and a GTX Titan GPU

Large-scale genome-wide association studies on a GPU cluster using a CUDA-accelerated PGAS programming model

[Abstract] Detecting epistasis, such as 2-SNP interactions, in genome-wide association studies (GWAS) is an important but time consuming operation. Consequently, GPUs have already been used to accelerate these studies, reducing the runtime for moderately-sized datasets to less than 1 hour. However, single-GPU approaches cannot perform large-scale GWAS in reasonable time. In this work we present multiEpistSearch, a tool to detect epistasis that works on GPU clusters. While CUDA is used for parallelization within each GPU, the workload distribution among GPUs is performed with Unified Parallel C++ (UPC++), a novel extension of C++ that follows the Partitioned Global Address Space (PGAS) model. multiEpistSearch is able to analyze large-scale datasets with 5 million SNPs from 10,000 individuals in less than 3 hours using 24 NVIDIA GTX Titans.London. Wellcome Trust; 076113London. Wellcome Trust; 08547

A Modular Parallel Pipeline Architecture for GWAS Applications in a Cluster Environment

A Genome Wide Association Study (GWAS) is an important bioinformatics method to associate variants with traits, identify causes of diseases and increase plant and crop production. There are several optimizations for improving GWAS performance, including running applications in parallel. However, it can be difficult for researchers to utilize different data types and workflows using existing approaches. A potential solution for this problem is to model GWAS algorithms as a set of modular tasks. In this thesis, a modular pipeline architecture for GWAS applications is proposed that can leverage a parallel computing environment as well as store and retrieve data using a shared data cache. To show that the proposed architecture increases performance of GWAS applications, two case studies are conducted in which the proposed architecture is implemented on a bioinformatics pipeline package called TASSEL and a GWAS application called FaST-LMM using both Apache Spark and Dask as the parallel processing framework and Redis as the shared data cache. The case studies implement parallel processing modules and shared data cache modules according to the specifications of the proposed architecture. Based on the case studies, a number of experiments are conducted that compare the performance of the implemented architecture on a cluster environment with the original programs. The experiments reveal that the modified applications indeed perform faster than the original sequential programs. However, the modified applications do not scale with cluster resources, as the sequential part of the operations prevent the parallelization from having linear scalability. Finally, an evaluation of the architecture was conducted based on feedback from software developers and bioinformaticians. The evaluation reveals that the domain experts find the architecture useful; the implementations have sufficient performance improvement and they are also easy to use, although a GUI based implementation would be preferable

Discovering Higher-order SNP Interactions in High-dimensional Genomic Data

In this thesis, a multifactor dimensionality reduction based method on associative classification is employed to identify higher-order SNP interactions for enhancing the understanding of the genetic architecture of complex diseases. Further, this thesis explored the application of deep learning techniques by providing new clues into the interaction analysis. The performance of the deep learning method is maximized by unifying deep neural networks with a random forest for achieving reliable interactions in the presence of noise