Genomic Scientist - Genomic Analysis

Boston Children's Hospital’s Research Informatics team supports basic, translational, and clinical pediatric research. The Genomic Scientist leads integrative bioinformatic analyses of genomic data, develops pipelines and variant interpretation workflows, and collaborates with physician-scientists to advance pediatric rare-disease research and genomic integration into clinical care.

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

Preferred

PhD in Genetics, Genomics, Computational Biology, Bioinformatics, or a related quantitative field

PhD

Genetics

Genomics

Computational Biology

Bioinformatics

Quantitative Research

Benefits

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 reimbursement

Certain license and certification reimbursement

Cell phone plan discounts

Discounted rates on T-passes

Company

Comprehensive pediatric health care and specialized hospital services

Boston, Massachusetts, USA

http://www.childrenshospital.org/

Founded in 1869

10001+ employees

Qualifications

Bachelor's degree

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

PhD in Genetics, Genomics, Computational Biology, Bioinformatics, or a related quantitative field

A minimum of one year of position-specific experience might potentially include experience acquired through MSc or Ph.D. studies.

Required skills

Represents the skills you have, click on the tags, Human Genetics, Whole-Genome Sequencing (WGS), Whole-Exome Sequencing (WES), RNA Sequencing, DNA Methylation Analysis, Long-Read Sequencing, Clinical NGS Testing, Variant Interpretation, ACMG Interpretation Guidelines, Python, Bash, Linux/Unix HPC

Experience

1+ years