Human Genetics Data Scientist

About the role

The Human Genetics & Targets team is a global group of computational and experimental scientists dedicated to developing and testing genetics-driven target hypotheses. Situated within the Discovery Sciences (DSc) department, the team's extensive expertise in genetics, biology, and translatable models is enhanced by DSc's capabilities in AI, functional genomics, chemical biology, and more. The team collaborates with disease area specialists to not only identify disease associations but fully understand the underlying disease mechanisms and advance drug discovery projects to benefit patients.

Key Responsibilities

• Processing, curating, and annotating biobank-scale whole-exome, whole-genome, and phenotypic data sets to support robust genetic analyses
• Evaluating published algorithms and implementing bioinformatic pipelines for gene-phenotype association analyses in population- and family-based studies
• Conducting focused gene- or target-specific human genetics research and analysis to support or refute therapeutic hypotheses
• Working in a multi-disciplinary team and communicating findings to a scientifically diverse audience
• Following best practices to document and ensure reproducibility of work

Essential Requirements

• Recent PhD (within last 2 years), or an MS and 2+ years of related post-graduate experience, or equivalent experience in human genetics, computational biology, bioinformatics, statistics, or related field
• Strong quantitative and analytical mindset with a foundation in statistical genetics
• Curious and adaptable with the ability and desire to rapidly learn across diverse areas as needed, including new algorithms, technologies, and disease area biology
• Familiarity with software (e.g. BCFtools, BEDtools, PLINK, Hail, regenie) and data types (e.g. CRAM/BAM, VCF, PLINK) common to human genetic and bioinformatic analysis
• Proficiency working with Unix/Linux-based systems and tools
• Proficiency in Python, R, Bash, and/or other relevant programming languages
• Experience working in high performance and cloud-based computing systems
• Able to communicate scientific results clearly

Desirable Requirements

• Experience processing and analyzing biobank-scale genomic data (e.g. UK Biobank, All of Us, FinnGen, etc.), working in associated Trusted Research Environments
• Experience performing genetic association studies
• A publication record that demonstrates an ability to perform scientific research

Pay

The salary for this position is expected to range between $103,600 and $192,400 USD annually for Expert I, Data Science, and $114,100 and $211,900 USD annually for Expert II, Data Science. The final salary offered is determined based on factors like, but not limited to, relevant skills and experience, and upon joining Novartis will be reviewed periodically. Novartis may change the published salary range based on company and market factors.

Schedule

Position Location: Cambridge, MA, onsite