Journal of the American Medical Informatics Association · 2020 · 30 citations · 24 references
Life SciencesCloud ComputingGeneticsCloud InfrastructureCloud Performance OptimizationGenomicsComputational GenomicsGenome-wide Association StudiesGenomic DatabasesNext-generation SequencingVariant AnalysisCloud ConfigurationCloud Configuration ManagementCost-effectivenessCost-effectiveness Analysis PerspectiveGenome-wide Association Study DesignWeb ServicesWhole-genome Sequencing Analysis
OBJECTIVE: Advancements in human genomics have generated a surge of available data, fueling the growth and accessibility of databases for more comprehensive, in-depth genetic studies. METHODS: We provide a straightforward and innovative methodology to optimize cloud configuration in order to conduct genome-wide association studies. We utilized Spark clusters on both Google Cloud Platform and Amazon Web Services, as well as Hail (http://doi.org/10.5281/zenodo.2646680) for analysis and exploration of genomic variants dataset. RESULTS: Comparative evaluation of numerous cloud-based cluster configurations demonstrate a successful and unprecedented compromise between speed and cost for performing genome-wide association studies on 4 distinct whole-genome sequencing datasets. Results are consistent across the 2 cloud providers and could be highly useful for accelerating research in genetics. CONCLUSIONS: We present a timely piece for one of the most frequently asked questions when moving to the cloud: what is the trade-off between speed and cost?
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