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At Boston Children’s Hospital, the quality of our care – and our inclusive hospital working environment – lies in the diversity of our people. With patients from local communities and 160 countries around the world, we’re committed to reflecting the spectrum of their cultures, while opening doors of opportunity for our team. Here, different talents pursue common goals. Voices are heard and ideas are shared. Join us, and discover how your unique contributions can change lives. Yours included. 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.
Job Responsibility
leading and completing integrative bioinformatic analyses of RNA sequencing, methylation, long-read sequencing, and whole genome/exome sequencing data
contributing to initiatives to more effectively diagnose and treat children with pediatric rare diseases by integrating genomics into clinical care and advancing rare disease research
leading bioinformatic analyses of data from patients and model organisms for projects across Boston Children’s Hospital
developing bioinformatics pipelines
applying variant interpretation algorithms
project management
communicating with diverse stakeholders to gather and articulate requirements from scientist-physicians
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
completing assignments in the required timeframe
leading Research Computing projects
training staff and researchers
contributing to scientific presentations and publications
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 required
experience working with high performance computing clusters
familiarity with pipeline management tools such as Nextflow, WDL and Snakemake desired
familiarity with clinical NGS testing and genomic data interpretation resources, including variant classification based on the ACMG guidelines 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
Nice to have
strong prior computational biology experience
completion of a PhD program
strong publication record
familiarity with pipeline management tools such as Nextflow, WDL and Snakemake
familiarity with clinical NGS testing and genomic data interpretation resources, including variant classification based on the ACMG guidelines
What we offer
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 and certain License and Certification Reimbursement