Principal Bioinformatics Data Scientist

About the Opportunity:

The organization is seeking a Principal Bioinformatics Data Scientist to advance genomic analysis through the development of computational methods, algorithms, and ML/AI-driven models. This role will lead innovation in bioinformatics, data science, machine learning, and clinical genomics, supporting the delivery of fast, accurate, and clinically actionable genomic insights.

Responsibilities:

• Design, develop, and optimize computational algorithms, statistical models, and machine learning/AI approaches for genomic data analysis.

• Develop algorithms for variant prioritization, pathogenicity prediction, phenotype-genotype association, and diagnostic decision support.

• Lead efforts to apply deep learning and predictive modeling to variant interpretation, phenotype correlation, and diagnostic decision support.

• Develop and optimize algorithms for secondary and tertiary genomic analysis, variant calling, variant annotation, ACMG classification, and data-driven interpretation of genomic findings.

• Apply deep learning architectures (CNNs, RNNs, GNNs, transformers) and probabilistic modeling approaches to improve variant calling, variant interpretation, and disease prediction.

• Design and optimize Bayesian, regression, and ensemble models to quantify uncertainty, improve confidence scoring, and support clinical decision-making.

• Develop feature engineering and dimensionality reduction strategies for multi-modal data integration (genomic, transcriptomic, phenotypic, and clinical).

• Serve as a subject matter expert in data science applications for bioinformatics pipeline development, including secondary and tertiary analysis, variant interpretation, and clinical reporting automation.

• Drive enhancements to existing bioinformatics pipelines for improved accuracy, performance, and interpretability.

• Integrate and analyze multi-omics datasets (genomic, transcriptomic, phenotypic, and clinical) to extract meaningful biological and clinical insights.

• Evaluate and enhance existing bioinformatics and data science pipelines for improved accuracy, speed, and scalability.

• Collaborate with engineering teams to integrate new algorithms and frameworks into production-grade analysis pipelines.

• Drive genomic data platform development to support a cohesive data ecosystem.

• Lead research and development in genomics data science.

Requirements:

• Master’s or higher degree (PhD preferred) in Bioinformatics, Computer Science, Data Science, Computational Biology, or related field.

• 6+ years of professional experience in genomic data science, including at least 3 years in a senior or lead role.

• Proven experience developing statistical, machine learning, and AI models using genomic and clinical data.

• Strong experience with secondary and tertiary genomic analysis (alignment, variant calling, annotation, interpretation).

• Experience with data Lakehouse technologies (Databricks, Snowflakes) and precision health platforms (DNAnexus, Velsera).

• Experience in big data, data ETL, data visualization, workflow orchestration/logging, and various databases (SQL, no-SQL, graph-based).

• Experience in a clinical or diagnostic genetics environment preferred.

• Proficient in Python, R, C/C++, Java, or similar programming languages.

• Expertise in machine learning frameworks (TensorFlow, PyTorch, Scikit-learn, XGBoost).

• Advanced understanding of statistical modeling (Bayesian inference, GLMs, mixed models, resampling methods).

• Experience applying deep learning (transformers, CNNs, GNNs) to genomic/biomedical data.

• Experience with NGS data formats and genome databases.

• Familiarity with cloud computing (Azure, AWS, GCP) and distributed computing (Spark, Dask).

• Familiarity with CI/CD, containerization (Docker/Kubernetes), and version control (Git).

• Ability to translate complex data analyses into actionable biological and clinical insights.

• Demonstrated leadership in cross-functional team environments.

Note:

RemoteHunter is not the Employer of Record (EOR) for this role. Our purpose in this opportunity is to connect exceptional candidates with leading employers. We help job seekers worldwide discover roles that match their goals and guide them to complete their full application directly through the hiring company’s career page or ATS.