Implementation of human whole genome sequencing data analysis: A containerized framework for sustained and enhanced throughput

Abhishek Panda, Krithika Subramanian,Bratati Kahali

Informatics in Medicine Unlocked(2021)

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摘要
Whole Genome Sequencing (WGS) provides information for each base of the entire 3.2 billion base pairs of the diploid human genome. Therefore, WGS plays an important role in identifying genetic variations for populations and understanding disease signatures in cohort studies or cases with rare genetic disorders. Nonetheless, discoveries from high throughput WGS are dependent on efficient processing, analyzing, and storing this enormous amount of genomic sequencing data, often in the scale of petabytes. Although there has been a significant reduction in genome sequencing costs in recent years, high-performance computation costs have not decreased in a directly proportional fashion.
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关键词
Containers,Resource optimization,Whole genome sequencing,Variant calling pipeline,Human
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