Abstract
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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Krissaane, I., De Niz, C., Gutierrez-Sacristan, A., Korodi, G., Ede, N., Kumar, R., … Avillach, P. (2021). Scalability and cost-effectiveness analysis of whole genome-wide association studies on Google Cloud Platform and Amazon Web Services. Journal of the American Medical Informatics Association, 27(9), 1425–1430. https://doi.org/10.1093/JAMIA/OCAA068
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