Genomic Scientist- Pipeline Development

Position Summary
Research Informatics supports basic, translational, and clinical pediatric research by delivering cutting-edge digital tools, high-performance computing (HPC), and advanced data science expertise. We bring together PhD-level bioinformaticians, genomic scientists, software engineers, and HPC specialists to collaborate with physician-scientists on work ranging from CryoEM to translational genomics.

As a Genomic Data Scientist, you will drive pipeline engineering and high-dimensional multi-omics analysis across pediatric rare disease initiatives. Working under general scientific direction, you will serve as a key technical and analytical contributor to genomics projects, architecting automated, reproducible workflow systems (e.g., Nextflow, WDL, Snakemake) to process and interpret RNA-seq, methylation, long-read, and whole genome/exome (WGS/WES) data.

Key Responsibilities

• Pipeline Engineering & Workflow Automation: Design, build, optimize, and maintain scalable, reproducible bioinformatics pipelines and automated variant interpretation workflows for research and clinical-grade multi-omics data.
• Hypothesis-Driven Data Analysis: Deploy automated analytical workflows to execute rigorous exploratory and inferential data processing on high-dimensional genomic datasets using advanced statistics, machine learning, and quantitative modeling.
• HPC & Infrastructure Optimization: Containerize computational tools (Docker/Singularity), implement version control (Git), and optimize code performance for efficient execution across High-Performance Computing (HPC) clusters.
• Biological Discovery & Project Execution: Partner with physician-scientists to translate raw multi-omics data into biological insights, managing computational project milestones and troubleshooting pipeline bottlenecks with minimal supervision.
• Documentation & Scientific Communication: Thoroughly document computational pipelines and code bases, contribute to peer-reviewed scientific publications, and present analytical methods at internal and external research forums.

Minimum Qualifications
Education:

• Bachelor's degree; PhD in Genetics, Genomics, Computational Biology, Bioinformatics, or a related quantitative field highly preferred.

Experience:

• A minimum of one year of position-specific experience might potentially include experience acquired through MSc or Ph.D. studies.
• Demonstrated experience building, maintaining, and automating bioinformatics pipelines using workflow orchestration engines (e.g., Nextflow, WDL, Snakemake).
• Strong programming proficiency in Python, R, and Bash in Linux/Unix High-Performance Computing (HPC) environments, including experience with containerization (Docker/Singularity) and version control (Git).
• Computational experience analyzing multi-omic datasets (WGS/WES, RNA sequencing, methylation, or long-read platforms).
• Experience with human genetics research, variant annotation tools, and familiarity with clinical NGS testing frameworks or ACMG interpretation guidelines in a research setting.
• Demonstrated ability to manage pipeline development tasks independently under general guidance, troubleshoot technical software issues, and collaborate effectively with multidisciplinary research teams.

The posted pay range is Boston Children's reasonable and good-faith expectation for this pay at the time of posting.

Any base pay offer provided depends on skills, experience, education, certifications, and a variety of other job-related factors. Base pay is one part of a comprehensive benefits package that includes flexible schedules, affordable health, vision and dental insurance, child care and student loan subsidies, generous levels of time off, 403(b) Retirement Savings plan, Pension, Tuition and certain License and Certification Reimbursement, cell phone plan discounts and discounted rates on T-passes. Experience the benefits of passion and teamwork.