Position Summary
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 will be responsible for leading and completing integrative bioinformatic analyses of RNA sequencing, methylation, long-read sequencing, and whole genome/exome sequencing data. You will 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 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 minimal 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.
• 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:

• A minimum of one year of position-specific experience.
• Preference for candidates with strong prior computational biology experience, potentially through completion of a PhD program and a strong publication record.
• Extensive experience with next-generation sequencing, particularly exome and whole genome sequencing analysis.
• Strong programming and bioinformatics skills. Proficiency with Bash, Python and/or R is required.
• Experience working with high performance computing clusters. Familiarity with pipeline management tools such as Nextflow, WDL and Snakemake is desired.
• Familiarity with clinical NGS testing and genomic data interpretation resources, including variant classification based on the ACMG guidelines, is preferred.
• Ability to critically evaluate medical and scientific literature with strong analytical and problem solving skills.
• Strong organizational skills with the ability to independently manage multiple tasks and projects in a fast-paced environment.
• Excellent written, verbal, and problem-solving skills.
• Collaborative team player with demonstrated initiative, independence, and attention to detail.