Human Genetics Data Scientist

Job Description Summary

We are seeking a human genetics data scientist to join the Human Genetics & Targets group within Biomedical Research at Novartis. In this role, you will analyze rich proprietary and public human genetics datasets, collaborating with computational scientists, experimental scientists, and disease area experts across Novartis to help discover, validate, and de-risk therapeutic targets. This is a unique opportunity for a talented early career data scientist to learn and grow while making a meaningful contribution to drug discovery at Novartis.

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.

Job Description

Internal Job Title:Expert I/II, Data Science

Position Location:Cambridge, MA, onsite

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

• Ability 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

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.

Your compensation will include a performance-based cash incentive and, depending on the level of the role, eligibility to be considered for annual equity awards.

US-based eligible employees will receive a comprehensive benefits package that includes health, life and disability benefits, a 401(k) with company contribution and match, and a variety of other benefits. In addition, employees are eligible for a generous time off package including vacation, personal days, holidays and other leaves.

To learn more about the culture, rewards and benefits we offer our people clickhere.

EEO Statement:

The Novartis Group of Companies are Equal Opportunity Employers. We do not discriminate in recruitment, hiring, training, promotion or other employment practices for reasons of race, color, religion, sex, national origin, age, sexual orientation, gender identity or expression, marital or veteran status, disability, or any other legally protected status.

Accessibility and reasonable accommodations

The Novartis Group of Companies are committed to working with and providing reasonable accommodation to individuals with disabilities. If, because of a medical condition or disability, you need a reasonable accommodation for any part of the application process, or to perform the essential functions of a position, please send an e-mail to us.reasonableaccommodations@novartis.com or call +1(877)395-2339 and let us know the nature of your request and your contact information. Please include the job requisition number in your message.

Salary Range

$103,600.00 - $192,400.00

Skills Desired

Biostatistics, Curious Mindset, Data Governance, Data Literacy, Data Quality, Data Science, Data Visualization, Graph Algorithms, Learning Agility, Machine Learning (ML), Machine Learning Algorithms, Python (Programming Language), Statistical Analysis, Time Series Analysis