Accelerating Variant Calling on Human Genomes Using a Commodity Cluster

Abstract

Variant calling is a fundamental task that is performed to identify variants in an individual's genome compared to a reference human genome. This task can enable better understanding of an individual's risk to diseases and eventually lead to new innovations in precision medicine and drug discovery. However, variant calling on a large number of human genome sequences requires significant computing and storage resources. While access to such resources is possible today (e.g., through cloud computing), reducing the cost of analyzing genomes has become a major challenge. Motivated by these reasons, we address the problem of accelerating the variant calling pipeline on a large number of human genome sequences using a commodity cluster. We propose a novel approach that synergistically combines data and task parallelism for different stages of the variant calling pipeline across different sequences with minimal synchronization. Our approach employs futures to enable asynchronous computations in order to improve the overall cluster utilization and thereby, accelerate the variant calling pipeline. On a 16-node cluster, we observed that our approach was 3X-4.7X faster than the state-of-the-art Big Data Genomics software.