Bioinformatics Research Associate

Location:  San Rafael, California Category: Research Employment Category: Fulltime-Temporary


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. 


Human Genetics is seeking a bioinformatics research associate to join the group. The candidate will integrate, analyze, and interpret high-throughput genomics and other omics data, and effectively communicate results to impact early pipeline development. Primary duties will be to

    • Characterize the underlying genetics, variability, and size of disease populations by utilizing information from the literature and large -omics databases.  

    • Develop workflows for processing high-throughput sequencing data.   


    • A background in genetics and/or genomics 

    • Proficiency in a programming language such as Python, R or Perl.  

    • Familiarity with relational database and SQL, such as mySQL or PostgreSQL. 

    • Familiarity with databases such as the UK Bio Bank, gnomAD, ClinVar and HGMD.  

    • Familiarity with tools such as PLINK, GATK, samtools, HAIL, and PennCNV 


A master’s degree or equivalent years of PhD work in bioinformatics, biostatistics, computational biology, quantitative genetics or related fields or 4+ years of work experience.

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.