Challenges of Large-Scale Biomedical Workflows on the Cloud -- A Case Study on the Need for Reproducibility of Results

Abstract

Computational bioinformatics workflows are extensively used to analyse genomics data. With the unprecedented advancements in genomic sequence technology and opportunities for personalized medicines, it is essential that analysis results are repeatable by others, especially when moving into clinical environment. To cope with the complex computational demands of huge biological datasets, a shift to distributed compute resources is unavoidable. A case study was conducted in which three well established bioinformatics analysis groups across Australia were assigned to analyse exome sequence data from a range of patients with a rare condition: disorder of sex development. Initially these groups us..