Bioinformatics Scientist/Engineer

Bioscope AI is an AI-first team transforming precision medicine into everyday clinical practice. As a Bioinformatics Scientist/Engineer, you will contribute to the development and validation of clinical-grade pipelines across pharmacogenomics and polygenic risk scoring, working alongside engineers and medical experts.

Responsibilities:

• Develop and improve clinical genomics pipelines in your area of interest: PGx track: Star-allele calling pipelines (e.g., CYP2D6, CYP2C19, DPYD, TPMT) handling structural variation and complex alleles
• PRS track: Polygenic risk score pipelines with multi-ancestry PRS models and clinical calibration
• Support existing 30X WGS infrastructure for feature extraction and clinical annotation
• Help curate and maintain annotation stacks integrating domain-specific databases (PharmGKB, CPIC, PharmVar, PGS Catalog) and proprietary AI-derived knowledge graphs
• Contribute to automated updates of clinical-grade knowledge sources
• Support validation, reproducibility, and audit trail implementation; assist with pipeline change-control documentation
• Partner with software and AI engineers to integrate genomic features into AI models
• Participate in cross-team design reviews and internal workshops