The O'Donnell-Luria Lab (https://odonnell-luria-lab.com/) 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, software developers, and genetic counselors 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 working with data and teams from the Genome Aggregation Database (gnomAD) and Center for Mendelian Genomics.
You will be a part of a methods development team and will have the opportunity to make substantial, concrete, and meaningful contributions to patients and families affected by rare disease. Representative projects include developing methods to identify pathogenic variation for Mendelian disease and studying the role of unannotated human genes.
The Bioinformatician 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
Characteristics and Qualifications:
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.
BS or MS degree and 0-2 years experience in computer science, engineering, physics, mathematics, (bio)statistics, biology, chemistry, physics, or related fields
Please submit a cover letter included with the application.
A successful candidate:
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
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 a competitive compensation and benefits package, including affordable health, vision and dental insurance,, 403(b) Retirement Savings plan, pension, tuition reimbursement, cell phone plan discounts and discounted rates on T-passes. Discover your best and make a difference at Boston Children's Hospital.
Boston Children's Hospital is a 395-bed comprehensive center for pediatric health care. As one of the largest pediatric medical centers in the United States, Children's offers a complete range of health care services for children from birth through 21 years of age.