COSMOS: cloud enabled NGS analysis (original) (raw)

AI-generated Abstract

The paper presents COSMOS, a cloud-enabled workflow management system designed for the analysis of next-generation sequencing (NGS) data. With the significant reduction in NGS costs, COSMOS aims to streamline the analysis process by leveraging cloud computing resources for improved scalability and parallelism, particularly in handling large-scale datasets. Implementing the Genome Analysis Toolkit (GATK) best practice protocol, COSMOS enables efficient quality control, alignment, and variant calling, ultimately making NGS analysis more accessible for clinical diagnostics and translational medicine, reducing costs to under $100 per whole genome analysis.

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