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Genomic Scientist

United States, Boston Employment contract 83241.60 - 133192.80 USD / Year · Job Posted May 29, 2026
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Job Description

At Boston Children’s Hospital, the quality of our care – and our inclusive hospital working environment – lies in the diversity of our people. With patients from local communities and 160 countries around the world, we’re committed to reflecting the spectrum of their cultures, while opening doors of opportunity for our team. Here, different talents pursue common goals. Voices are heard and ideas are shared. Join us, and discover how your unique contributions can change lives. Yours included. Position Summary: Research Computing supports basic, translational, and clinical research by providing pediatric researchers with access to digital tools and technologies. We bring together a diverse set of data science experts, including PhD-level bioinformaticians and genomic scientists, software engineers, and HPC specialists. We enable and collaborate with physician-scientists to develop solutions in support of cutting-edge research ranging from CryoEM to genomics and bioinformatics. As a Genomic Scientist, you will be responsible for leading and completing integrative bioinformatic analyses of RNA sequencing, methylation, long-read sequencing, and whole genome/exome sequencing data. You will be a key contributor to initiatives that aim to more effectively diagnose and treat children with pediatric rare diseases by integrating genomics into clinical care and advancing rare disease research. You will also lead bioinformatic analyses of data from patients and model organisms for projects across Boston Children’s Hospital. This position requires developing bioinformatics pipelines, applying variant interpretation algorithms, project management skills, and communicating with diverse stakeholders to gather and articulate requirements from scientist-physicians.

Job Responsibility

  • leading and completing integrative bioinformatic analyses of RNA sequencing, methylation, long-read sequencing, and whole genome/exome sequencing data
  • contributing to initiatives to more effectively diagnose and treat children with pediatric rare diseases by integrating genomics into clinical care and advancing rare disease research
  • leading bioinformatic analyses of data from patients and model organisms for projects across Boston Children’s Hospital
  • developing bioinformatics pipelines
  • applying variant interpretation algorithms
  • project management
  • communicating with diverse stakeholders to gather and articulate requirements from scientist-physicians
  • producing innovative solutions driven by exploratory data analysis of complex and high-dimensional datasets
  • applying knowledge of statistics, machine learning, programming, data modeling, and advanced mathematics
  • completing assignments in the required timeframe
  • leading Research Computing projects
  • training staff and researchers
  • contributing to scientific presentations and publications
  • presenting at project and internal meetings

Requirements

  • Bachelor’s degree, PhD preferred
  • minimum one year of position-specific experience
  • strong prior computational biology experience preferred
  • extensive experience with next-generation sequencing, particularly exome and whole genome sequencing analysis
  • strong programming and bioinformatics skills
  • proficiency with Bash, Python and/or R required
  • experience working with high performance computing clusters
  • familiarity with pipeline management tools such as Nextflow, WDL and Snakemake desired
  • familiarity with clinical NGS testing and genomic data interpretation resources, including variant classification based on the ACMG guidelines preferred
  • ability to critically evaluate medical and scientific literature with strong analytical and problem solving skills
  • strong organizational skills with the ability to independently manage multiple tasks and projects in a fast-paced environment
  • excellent written, verbal, and problem-solving skills
  • collaborative team player with demonstrated initiative, independence, and attention to detail

Nice to have

  • strong prior computational biology experience
  • completion of a PhD program
  • strong publication record
  • familiarity with pipeline management tools such as Nextflow, WDL and Snakemake
  • familiarity with clinical NGS testing and genomic data interpretation resources, including variant classification based on the ACMG guidelines

What we offer

  • 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
  • discounted rates on T-passes

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