Big Omics Data Experience
Patricia Kovatch1, Anthony Costa1, Zachary Giles1
1Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Place, New York, NY 10029, 212-241-6500.
Summary
Optimizing genomic data analysis requires tailored systems. This study details a high-throughput system design for the Genome Analysis ToolKit (GATK) pipeline, enhancing compute and storage efficiency for personalized medicine workflows.
Area of Science:
- Genomics
- Bioinformatics
- Computational Biology
Background:
- Personalized medicine drives increased human genome sequencing.
- This surge necessitates significant advancements in compute and storage infrastructure.
- Existing systems may not be optimized for the unique demands of genomic workloads.
Purpose of the Study:
- To design a high-throughput system for genomic data analysis without altering standard software.
- To optimize the Genome Analysis ToolKit (GATK) Best Practices pipeline for DNA and RNA sequencing.
- To improve the efficiency of compute and storage resources for genomic research.
Main Methods:
- Analysis of usage statistics, benchmarks, and available technologies.
- Evaluation of compute, workload, and I/O characteristics specific to genomic pipelines.
- System design focused on maximizing throughput for the GATK whole genome pipeline.
Main Results:
- Genomic workloads exhibit distinct characteristics compared to traditional High-Performance Computing (HPC).
- Specific configurations of schedulers and I/O subsystems are crucial for reliability and performance.
- The designed system achieved faster, repeatable performance and more efficient resource utilization.
Conclusions:
- Tailored system configurations are essential for optimizing genomic data analysis.
- Understanding user workflows (researchers and clinicians) is key to effective system design.
- The developed system enhances efficiency and performance for personalized medicine initiatives.
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