Translational Genomics Scientist - Pediatric Research

Boston Children’s Hospital; Boston (MA); Hybrid; USD 120,000 - 180,000; Full time

Job summary

Boston Children’s Hospital seeks a Genomic Scientist to lead integrative bioinformatic analyses of RNA sequencing, methylation, long-read sequencing, and whole genome/exome data. You will translate clinical requirements into actionable computational solutions.

The role emphasizes developing reproducible pipelines, applying variant interpretation algorithms, and collaborating with physician-scientists to advance pediatric translational genomics and rare disease research.

Qualifications

• PhD in Genetics, Genomics, Computational Biology, Bioinformatics, or related quantitative field highly preferred.
• At least 1 year of position-specific experience, potentially via MSc/PhD studies.
• Direct experience with human genetics research and human genomic datasets.
• Computational experience analyzing multi-omic datasets (WGS/WES, RNA-seq, methylation, long-read).
• Proficiency in Python, R, and Bash within Linux/Unix HPC environments.

Responsibilities

• Hypothesis-driven data analysis on high-dimensional genomic datasets using statistics and ML.
• Biological discovery by integrating multi-omics data to advance translational care and research.
• Pipeline development and maintenance of reproducible bioinformatics workflows.
• Lead analytical projects, manage milestones, and deliver validated results.
• Scientific communication through manuscripts and presentations; document workflows.

Skills

Python

R

Bash

HPC

Bioinformatics

Multi-omics

Data analysis

Genomics

Education

Bachelor's degree

PhD preferred

Tools

Linux/Unix

Variant annotation tools

ACMG guidelines

Job description

Boston Children’s Hospital seeks a Genomic Scientist to lead integrative bioinformatic analyses of RNA sequencing, methylation, long-read sequencing, and whole genome/exome data. You will translate clinical requirements into actionable computational solutions.

The role emphasizes developing reproducible pipelines, applying variant interpretation algorithms, and collaborating with physician-scientists to advance pediatric translational genomics and rare disease research.