Senior Expert Data Scientist, Human Genetics

Novartis Group Companies; Cambridge (MA); On-site; USD 126,000 - 234,000; Full time

Job summary

Novartis Group Companies in Cambridge, MA seeks a highly motivated computational scientist to apply human genetics and genomic data science to drug discovery. You will work with geneticists and disease-area scientists to generate actionable insights for target discovery and patient selection across CVM diseases.

You will analyze sequencing data, develop methods for variant prioritization, and contribute to patient stratification efforts while integrating multi-omics data to guide translational

Qualifications

• PhD with 2-3+ years or MS with 6+ years in human genetics, statistical genetics, computational biology, bioinformatics, epidemiology, biostatistics, or related field.
• Postdoctoral experience preferred.

Responsibilities

• Analyze whole exome/genome sequencing data to identify variants, genes, and pathways related to CVM diseases.
• Develop statistical genetics and bioinformatics methods for variant annotation, association, burden testing, and gene prioritization.
• Support identification, evaluation, and validation of novel therapeutic targets using genetic evidence and genomic data.
• Contribute to patient selection and stratification strategies for research programs with genetically defined subgroups.
• Integrate genetics results with transcriptomic, proteomic, and clinical data to derive insights.
• Collaborate with cross-functional teams to define analytical strategies and translate findings into recommendations.
• Develop reproducible, well-documented analytic workflows and contribute to best practices in genomic data analysis.
• Communicate results through presentations, reports, manuscripts, and project updates.
• Stay current with advances in genetics and computational methods for drug discovery.

Skills

Human genetics

Statistical genetics

Computational biology

Bioinformatics

Python

R

Linux

PostgreSQL/SQL

Genotype-phenotype

Education

PhD with 2-3+ years or MS with 6+ years

Tools

Git

Job description

Job Description Summary

#LI-OnSite Location: Cambridge This position is located in Cambridge, MA and does not have the ability to be located remotely. Please only apply if this area is accessible to you. We are seeking a highly motivated computational scientist to join the Cardiovascular and Metabolic Disease (CVM) research organization at Biomedical Research (BR) in Cambridge, MA. In this role, you will apply human genetics, statistical genetics, and genomic data science to support new therapeutic target discovery and patient selection strategies across CVM diseases. The successful candidate will work closely with geneticists, computational biologists, disease-area scientists, translational researchers, and clinical development colleagues to generate actionable insights from human genetic and genomic data. This is an opportunity to contribute to innovative drug discovery programs and help advance genetically informed approaches to precision medicine.

Key Responsibilities

• Analyze and interpret whole exome/genome sequencing data to identify genetic variants, genes, and biological pathways associated with cardiovascular and metabolic diseases.
• Develop and apply statistical genetics and bioinformatics methods for variant annotation, association analysis, burden testing, rare-variant analysis, causal inference, and gene prioritization.
• Support the identification, evaluation, and validation of novel therapeutic targets using human genetic evidence and complementary genomic data sources.
• Contribute to patient selection and stratification strategies for research and clinical programs, including the identification of genetically defined patient subgroups.
• Integrate human genetics results with transcriptomic, proteomic, functional genomics, clinical, and other relevant data to develop disease and target insights.
• Collaborate with cross-functional project teams to define analytical strategies, interpret findings, and translate results into clear scientific recommendations.
• Develop reproducible, well-documented analytical workflows and contribute to best practices for genomic data analysis.
• Communicate results through presentations, written reports, scientific manuscripts, and internal project updates.
• Stay current with advances in human genetics, statistical genetics, genomic medicine, and computational methods relevant to drug discovery and development.

Essential Requirements

• PhD with 2-3+ years or MS with 6+ years of industry experience in human genetics, statistical genetics, computational biology, bioinformatics, epidemiology, biostatistics, or a related field.
• Postdoctoral research experience is preferred.
• Demonstrated experience analyzing whole exome/genome sequencing data, including variant quality control, annotation, filtering, association testing, and interpretation.
• Strong understanding of human genetics and statistical genetics principles, including rare-variant analysis and genotype-phenotype associations.
• Familiarity with genome-wide association studies, phenome-wide association studies, polygenic risk scores, Mendelian randomization, or functional genomics.
• Experience integrating genomic data with clinical, molecular, or multi-omic datasets.
• Programming and data analysis expertise in Python or R, along with proficiency in Linux or Unix-based computing environments.
• Knowledge of workflow management systems (Git), collaborative coding, and reproducible research practices.
• Ability to work with large-scale genomic datasets and use appropriate statistical and computational methods to derive biologically meaningful conclusions.
• Strong scientific communication, collaboration, and problem-solving skills.

Preferred Qualifications

• Experience applying human genetic evidence to target discovery, target validation, or drug development.

Novartis Compensation and Benefit Summary

The salary for this position is expected to range between $126,000 and $234,000 per year.

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.

Salary Range

$126,000.00 - $234,000.00

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 [e-mail] or call [phone] and let us know the nature of your request and your contact information. Please include the job requisition number in your message.

Skills Desired

Artificial Intelligence (AI), Biostatistics, Change Management, Curious Mindset, Data Governance, Data Literacy, Data Quality, Data Science, Data Visualization, Deep Learning, Generative AI, Graph Algorithms, Learning Agility, Logistic Regression Models, Machine Learning (ML), Machine Learning Algorithms, Neuro-Linguistic Programming (NLP), Pandas Python Library, Python (Programming Language), R Programming, Stakeholder Engagement, Statistical Analysis, Structured Query Language (SQL), Time Series Analysis