Genomics analysis by pipelined bioinformatics software in cloud

摘要

Genome Next Generation Sequencing (NGS) is now commonly adopted, and has a broad area of applications such as the human Whole Genome Sequencing (WGS), human Whole Exome Sequencing (WES), Single Cell Sequencing, RNA Sequencing, ctDNA Testing for Non-Invasive Tumor Personalized Therapy, etc. Genomic analysis requires the use of multiple software executed in pipelines on large computing clusters. The analysis of genome data is remaining challenging for much of the biomedical researchers and research communities. In this paper, we introduce a cloud-based solution that supports the storage and streamlined bioinformatics analysis of big genome data. The cloud platform can effectively relieve scientists from the burden of operating computing clusters and scripting the pipelines by providing an analysis software store that multiple software can be seamlessly composed to form different analysis pipelines. The cloud platform can provide whole NGS service including sample genome sequencing, data storage, quality control, data analysis, genetic analysis, and report generation.