Bioinformatics

The O’Donnell-Luria Lab is seeking a creative and self-motivated candidate to play a key role in developing computational methods to improve the diagnosis of rare disease. Our research group is located in the Division of Genetics and Genomics at Boston Children’s Hospital and in the Program in Medical and Population Genetics at the Broad Institute of MIT and Harvard. We are an interdisciplinary team of post-doctoral researchers, computational biologists, and software developers who engage in the design, development, and deployment of cutting-edge genomic technologies at exceptional scale to characterize and interpret the impact of human genetic variation, using the largest human reference dataset, the Genome Aggregation Database (gnomAD). In particular, you will be a part of the gnomAD methods development group and will have the opportunity to make substantial, concrete, and meaningful contributions to patients and families affected by rare disease.

Representative projects include: a) developing methods to evaluate how commonly rare variant combinations occur in the general population to improve diagnosis and gene discovery for recessive disease; b) studying the involvement of unannotated human genes by comparing genomic data from the general population and rare disease patients.

You will be responsible for:

• Working with methods team members and Dr. O’Donnell-Luria to develop, design, and execute elegant and efficient computational methods and pipelines on gnomAD and rare disease data
• Writing pipeline code in Python and Hail (https://hail.is/) with an emphasis on correctness, concision, readability, re-usability, robustness to scale, speed, and automation/ease of use
• Regularly contributing code to the team’s GitHub repository and participating in team-based code review
• Presenting results at regular intervals at lab and project team meetings, including meetings with external collaborators as well as conferences as appropriate
• Contributing code, figures, and text to team presentations, grants, and publications, including, as appropriate, leading and coordinating manuscript writing

We are looking for a highly motivated candidate with the ambition to establish a significant body of code that advances the discovery of the genetic causes of rare disease. You will have an interest in developing domain expertise in computational methods for analyzing next-generation sequencing data, as well as an interest in the technical aspects of deploying these methods at scale.

In order to qualify, you must have:

• Has demonstrated experience in quantitative (statistical, mathematical, computational) research with large data sets; skill and experience with statistical analysis and/or computational biology is strongly preferred
• Writes clean, efficient, robust, and readable code, with demonstrated proficiency in one of the following: Linux, Perl, Python, Java, C++, Matlab, or R, with a strong preference towards Linux, Python, and R
• Has a BS or MS degree and 0-2 years experience in computer science, engineering, physics, mathematics, (bio)statistics, biology, chemistry, physics, or related fields
• Listens, communicates, and collaborates well with team members, clinicians, software developers, and research scientists
• Manages time well and is able to respond to shifting priorities on multiple projects in a fast-paced and rapidly changing environment
• Exhibits strong initiative and the ability to take ownership of assigned tasks and projects
• Demonstrates excellent written and oral presentation skills

Boston Children’s Hospital offers competitive compensation and unmatched benefits.

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.