Cloudbreak: Accurate and Scalable Genomic Structural Variation Detection in the Cloud with MapReduce
Christopher W. Whelan, Jeffrey Tyner, Alberto L’Abbate, Clelia Tiziana Storlazzi, Lucia Carbone, Kemal Sönmez
(Submitted on 9 Jul 2013)

The detection of genomic structural variations (SV) remains a difficult challenge in analyzing sequencing data, and the growing size and number of sequenced genomes have rendered SV detection a bona fide big data problem. MapReduce is a proven, scalable solution for distributed computing on huge data sets. We describe a conceptual framework for SV detection algorithms in MapReduce based on computing local genomic features, and use it to develop a deletion and insertion detection algorithm, Cloudbreak. On simulated and real data sets, Cloudbreak achieves accuracy improvements over popular SV detection algorithms, and genotypes variants from diploid samples. It provides dramatically shorter runtimes and the ability to scale to big data volumes on large compute clusters. Cloudbreak includes tools to set up and configure MapReduce (Hadoop) clusters on cloud services, enabling on-demand cluster computing. Our implementation and source code are available at this http URL