Genomic Scientist

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 developing bioinformatics pipelines for analyzing whole genome/exome sequencing and performing variant curation to diagnose children with rare disease. 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. This position requires applying variant interpretation algorithms, developing bioinformatics pipelines, completing integrative multi-omic analyses, project management skills and communicating with diverse stakeholders to gather and articulate requirements from the scientist-physicians.

The Genomic Scientist shall be responsible for :

• 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.

To qualify you must have:

• At least 4-year Bachelor's degree or 4-years of experience. A minimum of one year of position-specific experience.
• Preference for candidates with prior strong computational biology exposure, potentially through completion of a PhD program.
• Experience with next-generation sequencing and/or exome/whole genome sequence analysis.
• Familiarity with NGS clinical testing, databases, tools, and resources commonly used in interpretation of genomic data including variant classification based on the ACMG guidelines.
• Computer programming (e.g. R/Python) and bioinformatics experience.
• 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.