“The Center for Biomedical Informatics at the Children’s hospital of Philadelphia is the home for the development of innovative solutions to healthcare’s immediate and long-term informatics needs. CBMi provides informatics-focused services, applications, and educational programs to Children’s Hospital clinicians and researchers and seek to transform their craft with high-impact, low-cost solutions. One of the CBMi’s main areas of focus is genomics.

Pegasus Workflow Management System is our platform of choice for processing next-generation sequencing data including hundreds of whole-genome and whole-exome data sets. To implement clinical sequence analysis workflows, we needed a system that provides a reproducible, self-documented and well-logged solution and Pegasus addresses all of our concerns. Our Pegasus-based NGS sequence analysis workflows turn hundreds of gigabytes of raw sequencing data into manageable list of variants that can then be interpreted by scientists and geneticists. We take ‘big data’ that even cutting edge compute systems struggle with, and turn it into tangible data formats, enabling physicians and investigators to answer questions otherwise too complicated to solve with other methods.” — Mahdi Sarmady

Scientists: Mahdi Sarmady, Juan Perin