[Remote] Genomic Scientist

Note: The job is a remote job and is open to candidates in USA. Boston Children's Hospital is dedicated to supporting pediatric researchers with access to digital tools and technologies. As a Genomic Scientist, you will lead bioinformatic analyses of various sequencing data to enhance the diagnosis and treatment of pediatric rare diseases and contribute to advancing rare disease research.

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

Skills

• Bachelor's degree, PhD preferred
• A minimum of one year of position-specific experience
• 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
• 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
• Preference for candidates with strong prior computational biology experience, potentially through completion of a PhD program and a strong publication record
• 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

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