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  Porting the Variant Calling Pipeline for NGS data in cloud-HPC environment

Mulone, A., Awad, S., Chiarugi, D., & Aldinucci, M. (2023). Porting the Variant Calling Pipeline for NGS data in cloud-HPC environment. In Proceedings of the 2023 IEEE 47th Annual Computers, Software, and Applications Conference (COMPSAC). doi:10.1109/COMPSAC57700.2023.00288.

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 Creators:
Mulone, Alberto1, Author
Awad, Sherine2, Author
Chiarugi, Davide3, Author           
Aldinucci, Marco1, Author
Affiliations:
1Department of Computer Science, University of Turin, Italy, ou_persistent22              
2Institute of Metabolic Science, University of Cambridge, United Kingdom, ou_persistent22              
3Methods and Development Group Computing and Databases Services, MPI for Human Cognitive and Brain Sciences, Max Planck Society, ou_2205651              

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 Abstract: In recent years we have understood the importance of analyzing and sequencing human genetic variation. A relevant aspect that emerged from the Covid-19 pandemic was the need to obtain results very quickly; this involved using High-Performance Computing (HPC) environments to execute the Next Generation Sequencing (NGS) pipeline. However, HPC is not always the most suitable environment for the entire execution of a pipeline, especially when it involves many heterogeneous tools. The ability to execute parts of the pipeline on different environments can lead to higher performance but also cheaper executions. This work shows the design and optimization process that led us to a state-of-the-art Variant Calling hybrid workflow based on the StreamFlow Workflow Management System (WfMS). We also compare StreamFlow with Snakemake, an established WfMS targeting HPC facilities, observing comparable performance on single environments and satisfactory improvements with a hybrid cloud-HPC configuration.

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Language(s): eng - English
 Dates: 2023-08-02
 Publication Status: Published online
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 Identifiers: DOI: 10.1109/COMPSAC57700.2023.00288
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Title: Proceedings of the 2023 IEEE 47th Annual Computers, Software, and Applications Conference (COMPSAC)
Source Genre: Proceedings
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