Genomic Scientist

Boston Children's Hospital
Information Services-Research Computing
United States MA Boston


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.

The Genomic Scientist will be a key figure contributing to a hospital-wide initiative to sequence thousands of patients with rare diseases. Goals of the initiative include building a collection of sequencing data that is integrated with electronic health records and researcher registries and identifying and clinically confirming causal variants that affect the enrolled patients. The scientist will interpret whole exome and whole genome data across rare disease cohorts. They will interpret novel structural variants, transcriptomic and mechanistic data and participate in cross-cutting collaborations. The ideal candidate should have enthusiasm for developing collaborative relationships and a desire to foster the use of bioinformatics data in research studies.

Excellent written and verbal communication, an ability to translate complex and domain-specific information for nonspecialists and the ability to empathize with the needs of nontraditional users Effectiveness and comfort in teaching and public speaking
A positive attitude and ability to develop productive relationships with pediatric researchers
Desire to work and problem solve in a team environment, where staff frequently depend on one another
Ability to provide solution-agnostic support by focusing on research requirements and desired outcomes Patience and persistence to troubleshoot technical issues Passion for new technologies and science
In order to qualify you must have:
Minimum of Bachelor’s degree in Computer Science, bioInformatics or related, with a minimum of six years of work experience which might include graduate projects, Ph.D. preferred
Strong background and experience with bioinformatics data Strong publication record Knowledge and experience in the use of open source bioinformatics software and pipelines to support diverse bioinformatics analyses such as single cell RNA-seq, bulk RNA-seq, WGS, proteomics, etc.
Proficiency with Python and R required; experience with SQL, Git, scientific workflow tools, HPC and/or cloud computing would be a bonus.

Please note: During a public health emergency, individuals in this role may be expected to take on additional duties to respond to organizational needs

Boston Children’s Hospital offers competitive compensation and unmatched benefits, including affordable health, vision and dental insurance, generous levels of time off, 403(b) Retirement Savings plan, Pension, Tuition Reimbursement, cell phone plan discounts and discounted rates on T-passes (50% off). Discover your best.

Boston Children’s Hospital is an Equal Opportunity / Affirmative Action Employer. Qualified applicants will receive consideration for employment without regard to their race, color, religion, national origin, sex, sexual orientation, gender identity, protected veteran status or disability.


Start date

To be determined

How to Apply


Ryann Gagnon