Scientist II

• Oversee the analysis of large-scale sequencing data in external cohorts of patients, working with academic and commercial partners to estimate disease prevalence of rare autosomal recessive diseases and support efforts in identifying patients around the world
• Merge diverse sources of genotype-phenotype information, including in vitro data, and apply state-of-the-art annotation methods for determining mutation pathogenicity
• Communicate discoveries to internal colleagues with a variety of backgrounds and to the wider scientific community through presentations or publications
• Collaborate with internal colleagues across a variety of functions and backgrounds to understand the critical needs of the Enzyme Replacement Therapy Business Unit and deliver on those goals using genetic and genomic data
• Evaluate bioinformatic and in vitro methods for resolving variants of uncertain significance (‘VUSs’)
• coordinate with external partners to execute translational assays for assessing variants of uncertain significance
• Act as a leader for and provide support to more junior members of the team

• PhD in bioinformatics, statistical genetics, computational biology, or a related field (or equivalent)
• Strong analytic skills, including fluency in at least one major programming language (ideally R or Python), and experience working with a high-performance computing cluster
• Hands-on experience managing, analyzing, and interpreting large omics datasets, especially genetic variation data such as sequencing data and data capturing genotype-phenotype relationships
• Experience leading your own research projects, particularly those that are collaborative (e.g., spanning multiple sites) and/or cross-functional (e.g., working and communicating with scientists outside your field of expertise)
• Ability to engage with internal and external partners to understand and identify key scientific questions and assess project priorities
• A clear track-record of communicating science, for example through publications or conference presentations

2+ years of experience post PhD in academia or industry