Scientist 2, BioInfomatics - Human Genetics
BioMarin is the world leader in delivering therapeutics that provide meaningful advances to patients who live with serious and life-threatening rare genetic diseases. We target diseases that lack effective therapies and affect relatively small numbers of patients, many of whom are children. These conditions are often inherited, difficult to diagnose, progressively debilitating and have few, if any, treatment options. BioMarin will continue to focus on advancing therapies that are the first or best of their kind.
BioMarin’s Research & Development group is responsible for everything from research and discovery to post-market clinical development. Research & Development involves all bench and clinical research and the associated groups that support those endeavors. Our teams work on developing first-in-class and best-in-class therapeutics that provide meaningful advances to patients who live with rare diseases. Come join our team and make a meaningful impact on patients’ lives.
We’re seeking a computational biologist to join the Bioinformatics group in the Human Genetics department at BioMarin Pharmaceutical. The candidate will lead discovery activities to transform human genetics and genomics discoveries to therapeutic hypotheses, and effectively communicate results to impact multiple stages of our drug discovery and development pipeline. The successful candidate will have the opportunity to work in a fast-paced and highly collaborative environment and will be responsible for developing and employing rigorous statistical, computational, and bioinformatics approaches and to engage scientists and project teams to leverage genomics data in achieving project objectives.
- Apply and develop robust statistical and computational approaches to analyze and integrate omics data to drive disease/target/biomarker identification, mechanistic investigation, causal inference, and hypothesis generation/testing
- Work closely with project teams and functional areas to identify and provide computational solutions to address key biological questions, including identifying datasets, formulating hypothesis, developing and implementing analytical solutions
- Evaluate and develop bioinformatics methods to integrate, summarize and report genetic, genomic, and other omics and functional genomics data, examples include RNA-seq, scRNA-seq, WES/WGS, CHiP-seq, Hi-C and many other high-throughput genomics, epigenomics, proteomics, and metabolomics data
Ph.D., minimum of 5 years post degree experience in computational biology, genomics, bioinformatics, biostatistics or related fields
- Solid foundation in computation, machine learning, and systems biology
- Demonstrated ability to work in cross-functional teams and being a highly collaborative and active team contributor
- Hands-on experience to manage, analyze and interpret large genomics and functional genomics studies (e.g. GTEx, ENCODE, BLUEPRINT, Brain atlas, FANTOM)
- Knowledge and experience of statistical inference and machine learning analysis and software (e.g. differential expression, co-regulated gene networks, cell type stratification, functional motif prediction, causal inference)
- Statistical programming skills (R/Matlab), programming and scripting skills (Python/Perl/Shell/etc.), and experience with high performance computing or AWS
- Strong scientific curiosity and initiative, knowledge of experimental design
- Excellent problem-solving, teamwork, organization and communication skills
- Working experience of integrating GWAS summary statistics with molecular profiling data and functional genomics data will be a plus
We are an equal opportunity employer and all qualified applicants will receive consideration for employment without regard to race, color, religion, sex, national origin, disability status, protected veteran status, or any other characteristic protected by law.