Associate Director, NGS Analysis R&D

The Regeneron Genetics Center (RGC) is a wholly-owned subsidiary of the Company, whose goals are to apply large scale human genetics to identify new drug targets and to guide the development of therapeutics programs and precision medicine. Building upon Regeneron's strengths in mouse genetics and genetics-driven drug discovery and development, the RGC specializes in ultra-high-throughput exome sequencing, large scale informatics and data analysis encompassing genomics and electronic health records, and translating genetic discoveries into new biology and drug discovery opportunities. The RGC leverages multiple approaches including large population based studies, Mendelian genetics and family based studies, founder population genetics, and large-scale disease focused projects and has developed a network of over 50 collaborations with research organizations around the world. Including some of the largest sequencing studies in the world, such as the DiscovEHR study in collaboration with Geisinger Health System, and an initiative to sequence 500,000 participants with the UK Biobank, the RGC has built one of the largest human genetics databases, including sequence data from over several hundred thousand participants and rapidly growing. Our interests encompass a breadth of different areas across all therapeutic areas and the RGC is highly integrated into all facets of research and development at Regeneron. Program goals include target discovery, indication discovery, and patient-disease stratification. Objectives include advancing basic science around the world through public sharing of discoveries, providing clinically-valuable insights to physicians and providers of collaborating health-care systems, improving patient outcomes, and identifying novel targets for drug development.

Summary
The Genome Informatics and Data Engineering team is seeking an Associate Director of Next-generation Sequencing Analysis R&D who will be responsible for defining and deploying new tools to be used in various aspects of our NGS data production and analysis efforts. Specifically, the candidate will be responsible for (i) testing and benchmarking existing tools, developing new tools, and staying abreast of new genome informatics analytical approaches coming out of the academic community (ii) document thoroughly tool benchmarks and cross-comparisons providing detailed analyses that can inform decisions about tools to include in various pipelines, (iii) provide input and advise on strategic directions and developments to expand data deliverables and provide pipeline improvements and optimizations, (v) collaborate with teams across the RGC and Regeneron to ensure that all RGC data and pipelines serve the scientific needs of our collaborators and colleagues.

Responsibilities

• Define strategic vision and development efforts for identifying existing and building new tools to improve RGC NGS analysis pipelines

• Manage development, deployment, and improvement of sequencing pipelines that will be applied in production by the S&LO group

• Manage R&D and innovation efforts in alignment, variant calling, filtering, project-level data aggregation, and QA/QC of sample- and project-level variant calls and results.

• Maintain documentation, SOPs, and work together with S&LO to support change control processes for all production analysis pipelines.

• Ensure that needs for pipeline changes are anticipated and met on tight timelines

• Provide downstream analysts with clarity about the impact of changes and maintaining the highest level of confidence in data quality and reproducibility in our data.

• Develop and test new pipelines collaboratively with other RGC teams, and productionalize key workflows to support the application of new pipelines

• Collaborate with teams across the RGC and Regeneron to ensure that all RGC data and tools are findable, accessible, interoperable, and reusable.
Requirements
This position requires a Ph.D. with 4+ years of experience in sequencing and/or genome informatics tool development and application, plus 2 or more years of experience supporting genome informatics efforts in the context of large-scale sequencing supporting major international collaborative genomics projects.

Additional requirements include:

• Proven track record of developing and publishing novel genome informatics tools

• Experience managing and coordinating with IT teams to deploy and improve operational production analysis pipelines

• Experience with cloud computing (AWS preferred)

• Deep knowledge of NGS sequencing technologies

• Experience with long read sequencing and structural variation analyses a plus

• Excellent communication and presentation skills required

• Experience in managing different workstreams and coordinating tasks with internal teams and outside consultants

Level is commensurate with experience

This is an opportunity to join our select team that is already leading the way in the Pharmaceutical/Biotech industry. Apply today and learn more about Regeneron's unwavering commitment to combining good science & good business.

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Regeneron is an equal opportunity employer and all qualified applicants will receive consideration for employment without regard to race, color, religion, sex, national origin, sexual orientation, gender identity, disability status, protected veteran status, or any other characteristic protected by law.