This is an exciting time to join our dynamic organization. OPKO Health is a diversified healthcare company that seeks to establish industry-leading positions in large, rapidly growing markets, including pharmaceuticals, diagnostics, and biologics. OPKO's diagnostics business includes BioReference Laboratories, the nation's third-largest and fastest growing clinical laboratory over the last 35 years, which provides diagnostic testing to physician offices, hospitals, and clinics, among others, and GeneDx, a rapidly growing genetics and genomics laboratory that applies cutting edge technologies to make efficient clinical diagnostic testing and interpretation available for individuals with rare and common genetic conditions. Come join our team and become part of something big, by making our patients and customers the highest priority.

GeneDx is seeking a Director of Bioinformatics (FT, 40 hours)

As the Director of Bioinformatics, you will be responsible for genomic data processing and storage for one of the premier clinical diagnostic genetic testing providers. You will oversee a team of engineers building and supporting software and infrastructure for the processing and management of data from next-generation sequencing and a variety of other high-throughput genomic technologies.

This position will be responsible for developing and executing project plans for the launch of new assays and technologies and the improvement of existing assays and processes. You will also be responsible for ensuring the operational stability and efficiency of deployed pipelines and related applications. In this role, you will report to the Chief Technology Officer and contribute to the ongoing creation of a long-term technology vision and strategy. As a key part of the development team, you will also work closely with the upstream laboratory development team and the downstream genomic data analysis teams.

Duties
•    Directly supervise and mentor a team of software and bioinformatics engineers developing and supporting data processing pipelines and related applications across a range of technologies (Illumina NGS, Pacbio, microarrays, MLPA, Sanger, PCR, etc.)
•    Develop and execute project plans for the launch of new assays and technologies
•    Develop and execute project plans for the improvement of existing pipelines or other applications
•    Collaborate with other development, software, and research teams
•    Work with internal stakeholders to develop project requirements
•    Track and communicate progress on projects
•    Optimize pipelines, applications, and data storage for cost and performance
•    Ensure operational stability for critical data processing pipelines and applications in a high-throughput, fast turnaround setting
•    Conceptualize and implement data storage models to handle millions of WGS samples and other large-scale genomic data
•    Oversee the development and deployment of Azure cloud infrastructure to support genomic data applications
•    Work with enterprise IT teams to develop short and long-term local infrastructure requirements for genomic data processing and storage
•    Recruit additional team members as needed
•    Manage the validation and deployment of pipelines/applications in CLIA/CAP/NY regulated laboratory

Minimum Qualifications:
•    MS in Computer Science, Bioinformatics, or a related field
•    10+ years relevant professional experience including 5+ years in a leadership role
•    Demonstrated expertise developing software for the processing and management of next-generation sequencing and other large-scale genomic data
•    Knowledge of data lifecycle management
•    Demonstrated understanding of modern software development best practices including testing and version control
•    Experience building and recruiting bioinformatics or software engineering teams
•    Proficiency in Python or another modern programming language
•    Experience designing and supporting relational and non-relational databases or other genomic-scale data storage models (Databricks, Snowflake, etc.)
•    Expertise in high-throughput genomic computing using HPC (SLURM, SGE, or similar)

Preferred Qualifications:
•    Expertise in cloud pipeline, application, and storage development and deployment (preferably Azure)
•    Familiarity with SLURM
•    Expertise in modern pipeline/orchestration frameworks such as Cromwell
•    Experience with non-NGS genomic data
•    Experience developing, validation, and deploying software in a regulated laboratory environment (CLIA, CAP, NY, FDA)
•    Familiarity with IT procurement planning
•    Familiarity with cloud computing/storage cost optimization