PopGenPlayground:a population genomics analysis pipeline

Abstract

AbstractBackgroundPopulation genomic projects are essential in the current drive to map the genome diversity of human populations across the globe. Various barriers persist hindering these efforts, and the lack of bioinformatic expertise and reproducible standardized population-scale analysis is one of the major challenges limiting their discovery potential. Scalable, automated, user-friendly pipelines can help researchers with minimum programming skills to tackle these issues without extensive training.ResultsPopGenPlayground(PGP), is a streamlined, single-command computation pipeline designed for human population genomics analysis based onSnakemakeworkflow management system. Developed to automate secondary analysis of a previously published national genome project, it leverages the publicly available genomic databases for comparative analysis and annotation of variant calls.ConclusionsPGP presents a multi-platform robust population analysis pipeline, that reduces the time and the expertise levels to perform the main core of population analysis for a national genome project. PGP provides a comprehensive secondary analysis tool and can be used to perform analysis on a personal computer or using a remote high-performance computing platform.