Genomic Scientist Boston Children's Hospital

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 would be responsible for completing integrative bioinformatic analyses of RNA sequencing, methylation, long-read sequencing and whole genome/exome sequencing data. You would 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 the scientist-physicians.

Key Responsibilities

• 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 to generate and test hypotheses and interpret the results of experiments
• With supervision and direction, completing assignments in the required timeframe while consistently adhering to standard operating procedures and best practices; adapting to a changing environment, resolving problems associated with assignments, and seeking supervisor assistance when needed.
• Participating and/or co-leading Research Computing projects with other members from the BCH research community; setting goals and objectives for projects and demonstrating achievement of those goals and objectives.
• Training staff and researchers; effectively tailoring presentations; developing, implementing, and maintaining knowledge management systems.
• Contributing to a range of communications (e.g. scientific presentations and publications) that clearly deliver content; preparing communications appropriate for management and internal distributions.
• Presenting at project and internal meetings; effectively conveying progress and asserting point of view; constructively discussing issues and providing facts; building credibility and trust by asking thoughtful questions and actively listening; running productive project meetings that advance problem-solving.

Minimum Qualifications
Education:

• Bachelor's degree, PhD preferred.

Experience:

• Minimum of one year of position-specific experience.
• Experience with next-generation sequencing and/or exome/whole genome sequence analysis.
• Computer programming (e.g. R/Python) and bioinformatics experience.
• Familiarity with NGS clinical testing, databases, tools, and resources commonly used in interpretation of genomic data including variant classification based on the ACMG guidelines.
• Ability to critically analyze medical and scientific literature with outstanding attention to details.
• Ability to balance and manage multiple tasks and projects independently; detail-oriented, excellent organizational skills.
• Excellent communication, writing skills and problem solving skills required.
• Independence, initiative, and problem-solving ability.
• Highly collaborative and able to work well in a team.
• Demonstrated attention to detail and analytical skills.

Boston Children's Hospital offers unmatched benefits including 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, and discounted rates on T-passes.