Genomic Scientist - Genomic Analysis

Boston Children's Hospital; Boston (MA); On-site; USD 110,000 - 160,000; Full time

Job summary

Boston Children's Hospital is seeking a Genomic Scientist to lead integrative analyses of RNA sequencing, methylation, long-read sequencing, and WGS/WES data in a translational pediatric context.

You will develop pipelines, apply variant interpretation algorithms, and collaborate with physician-scientists to turn clinical requirements into computational solutions, contributing to research and clinical care.

Qualifications

• PhD in Genetics, Genomics, Computational Biology or related field preferred.
• Strong programming in Python, R, and Bash under Linux/HPC.
• Experience analyzing WGS/WES, RNA-seq, methylation, or long-read data.
• Familiarity with ACMG guidelines and clinical NGS frameworks.

Responsibilities

• Lead integrative bioinformatic analyses of multi-omics data.
• Develop and maintain reproducible pipelines and variant interpretation workflows.
• Collaborate with physician-scientists to translate clinical requirements into computational solutions.
• Contribute to peer-reviewed manuscripts and present findings.

Skills

Python

R

Bash

Linux/HPC

Genomics/Bioinformatics

Data analysis

Team collaboration

Education

PhD in Genetics/Genomics/Computational Biology

Bachelor's degree

Tools

Variant annotation tools

Linux/Unix HPC

Job 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 Scientist, you will lead integrative bioinformatic analyses of RNA sequencing, methylation, long-read sequencing, and whole genome/exome sequencing (WGS/WES) data. You will be a key contributor to initiatives that integrate genomics into clinical care and advance research for pediatric rare diseases. This role involves developing bioinformatics pipelines, applying variant interpretation algorithms, managing collaborative projects, and translating complex clinical requirements from physician-scientists into actionable computational solutions.

Key Responsibilities

• Hypothesis-Driven Data Analysis: Perform rigorous exploratory and inferential data analysis on high-dimensional genomic datasets using statistics, machine learning, and quantitative modeling to test biological hypotheses.
• Biological Discovery: Critically evaluate, contextualize, and extract actionable insight from disparate multi-omics sources to advance translational care and fundamental genomic research across Boston Children's Hospital.
• Pipeline Development & Maintenance: Build, adapt, and execute reproducible bioinformatics pipelines and variant interpretation workflows tailored to research and translational initiatives.
• Analytical Project Execution: Lead the computational execution of collaborative research studies; manage project milestones, resolve analytical bottlenecks, and deliver validated results under general supervision.
• Scientific Communication: Contribute significantly to peer-reviewed scientific manuscripts, present analytical findings at internal and external research forums, and document computational workflows for institutional knowledge-sharing.

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.
• Solid analytical and scientific reasoning skills, evidenced by contributions to peer-reviewed scientific publications and technical presentations.
• Direct experience with human genetics research and human genomic datasets.
• Computational experience analyzing multi-omic datasets, specifically whole-genome/exome sequencing (WGS/WES), RNA sequencing, methylation, or long-read platforms.
• Familiarity with clinical NGS testing frameworks, variant annotation tools, and ACMG interpretation guidelines in a research setting.
• Proficiency in Python, R, and Bash within Linux/Unix High-Performance Computing (HPC) environments.
• Demonstrated ability to manage analytical tasks independently under general guidance, troubleshoot technical challenges, 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.