Bioinformatics Scientist II

Children's Hospital of Philadelphia (Philadelphia, PA):Build and manage bioinformatics frameworks and create tools to extract clinically relevant data about human health and disease and analyze large-scale biomedical datasets. Develop web-based applications using Python, R, Bash, and Common Workflow Language (CWL), and Docker for containerization. Utilize Spark in Python and Scala to process large-scale datasets efficiently. Perform genomic variant analysis, integrating public domain annotations from sources such as gnomAD, REVEL, HGMD, and ClinVar. Identify de novo Copy Number Variants (CNVs), and infer CNV inheritance and family segregations using GATK CNV workflow and CNVnator outputs. Employ the Seven Bridges API for comprehensive task management, including batch task submissions and monitoring. Navigate and manage Linux-based systems, including executing command-line operations, shell scripting, and utilizing bioinformatics tools. Utilize expertise in Linux system configuration, troubleshooting, and optimizing computational workflows to ensure smooth data processing.Requires a Bachelor's degree in Bioinformatics or a closely related field and 3 years of related experience or alternatively a Master's degree in same and 1 year of related experience. Experience must include performing NGS data analysis (whole genome and exome sequence data) and genetic variant analysis; designing Docker containers for scalable bioinformatics pipelines; using programming languages including Python, R, Bash, and CWL for data and statistical analysis, data visualization, task automation and bioinformatics pipeline development; developing bioinformatics workflows; and utilizing Linux systems for bioinformatics analyses. Telecommuters considered. Travel (<5%) for conferences within the United States. Send resumes to: [email protected].