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BC

Genomic Scientist- Pipeline Development

Boston Children's Hospital
  • 🇺🇸 United States
  • On-site
  • 1 day ago
  • $74,089.60 – $118,549.60 / year
  • Snakemake
  • Machine Learning
  • Docker
  • Git
  • Python
  • Bash
  • Linux
  • Unix
  • NGS
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Job Posting Description

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.
  • Status: Full-Time
  • Regular, Temporary, Per Diem: Regular
  • Standard Hours per Week: 40
  • Pay Range: $74089.60-$118549.60 Annual
  • Job Posting Category: Information Technology, Research
  • Remote Eligibility: Full-Time Remote

Genomic Scientist- Pipeline Development · Boston Children's Hospital

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