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Automated Next Generation Sequencing Bioinformatics Pipelines for Pathogen Discovery and Surveillance

Next-generation sequencing (NGS) has become a vital tool in clinical microbiology, with numerous applications in infectious disease diagnostics, outbreak investigations, and public health surveillance. Although the NGS technology enables comprehensive pathogen detection in a relatively short time at a low cost, the enormous amount of genomics data generated creates a critical challenge of effectively organizing, archiving, analyzing, and reporting the results within a clinically relevant timeframe. Automated pipelines provide the first step in standardizing NGS data processing and reporting, thus eliminating the common bottlenecks in bioinformatics analyses, and providing rapid turnaround. Here, we present the Viral NGS Pipeline optimized for identification and whole genome assembly of viruses, and the Bacterial Meningococcus Genome Analysis Platform (BMGAP), designed for genotypic characterization of meningitis pathogens. These respective pipelines have been used to analyze more than 11,000 clinical samples and isolates. The pipelines are deployable on both standalone and cloud-based servers, enabling their accessibility to internal CDC users, as well as external partners, including state public health laboratories and other collaborators worldwide. These automated pipelines have the potential to contribute to the development of unbiased NGS-based clinical assays for pathogen detection that demand rapid turnaround times, and are expected to play a key role in infectious disease surveillance in the future.