Senior Bioinformatics Scientist/Engineer

Bioscope AI is an innovative company focused on transforming precision medicine through advanced AI technologies. They are seeking a Senior Bioinformatics Scientist/Engineer to design and validate clinical-grade genomic pipelines, collaborating with various experts to enhance clinical interpretations for physicians.

Responsibilities:

• Architect and optimize clinical genomics pipelines in your area of expertise: PGx track: Star-allele calling pipelines (e.g., CYP2D6, CYP2C19, DPYD, TPMT) handling complex structural variation, gene duplications, and hybrid alleles
• PRS track: Polygenic risk scoring pipelines with integrated multi-ancestry PRS models and clinical calibration utilizing traditional WGS SNV/INDEL variant calling plus phenotypic data
• Extend existing 30X WGS infrastructure to support robust feature extraction and clinical annotation
• Curate and maintain annotation stacks integrating domain-specific databases (PharmGKB, CPIC, PharmVar, PGS Catalog) and proprietary AI-derived knowledge graphs
• Build automated cadenced updates of clinical-grade knowledge sources to feed the AI engine
• Implement validation, reproducibility, and audit trails; pipeline change-control logs; briefing decks
• Partner with software and AI engineers to integrate genomic features into AI models
• Participate in cross-team design reviews and internal workshops on clinical curation and validation