Genomic Scientist — Translational Pediatric Bioinformatics

Boston Children's Hospital; Boston (MA); On-site; USD 110,000 - 180,000; Full time

Benefits offered by this job

Health insurance

Flexible schedules

Retirement plan

Tuition reimbursement

Paid time off

Job summary

Boston Children's Hospital is seeking a Genomic Scientist to lead integrative bioinformatic analyses of RNA sequencing, methylation, long-read sequencing, and whole genome/exome sequencing data. You will develop bioinformatics pipelines, apply variant interpretation algorithms, and translate clinical requirements into actionable computational solutions.

The role collaborates with physician-scientists and cross-disciplinary teams to advance pediatric rare disease research and integrate genomics

Qualifications

• Experience with human genetics research and human genomic datasets.
• Experience analyzing multi-omic datasets (WGS/WES, RNA-seq, methylation, or long-read data).
• Familiarity with clinical NGS testing frameworks and ACMG interpretation guidelines.

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.

Skills

Python

R

Bash

Linux HPC

Genomics

Education

PhD in Genetics

PhD in Genomics

PhD in Computational Biology

PhD in Bioinformatics

Bachelor's degree

Tools

ACMG guidance

Job description

Boston Children's Hospital is seeking a Genomic Scientist to lead integrative bioinformatic analyses of RNA sequencing, methylation, long-read sequencing, and whole genome/exome sequencing data. You will develop bioinformatics pipelines, apply variant interpretation algorithms, and translate clinical requirements into actionable computational solutions.

The role collaborates with physician-scientists and cross-disciplinary teams to advance pediatric rare disease research and integrate genomics