[Remote] Senior Bioinformatics Scientist/Engineer

Note: The job is a remote job and is open to candidates in USA. 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 Skills
• PhD (or MS with 5+ yrs experience) in Genetics, Genomics, Bioinformatics, Computational Biology, or related field
• 4+ yrs deep expertise in one of the following: Pharmacogenomics: star-allele calling, diplotype assignment, phenotype prediction, complex locus resolution
• 4+ yrs deep expertise in one of the following: Polygenic risk scoring: PRS development (PRS-CS, LDpred, etc.), multi-ancestry methods, clinical calibration, integrated scoring with phenotypic+monogenic data
• Solid grasp of variant calling (DRAGEN, GATK), structural variant/copy number variant detection, and functional annotation methods
• Proficiency in Python for production-grade code, full unit-test coverage, REST API usage, reproducible statistical analysis, and visualizations; AWS database resource familiarity
• Experience working in an agile based software organization, clearly documenting ticketed work, and modifying code in git-tracked production code bases
• Comfort with AWS services (Lambda, Fargate, Step Functions, Glue, Athena)
• Highly comfortable with AI-based development tools (Claude Code, Cursor, OpenAI Agents)
• Exposure and familiary with other 'omics' (proteomics, epigenomics, transcriptomics)
• Strong communication skills—able to translate genomic insights into plain language for physicians, regulators, and engineers
• Experience contributing to or curating clinical-grade databases in your domain
• Prior authorship of clinical validation studies published in peer-reviewed journals
• Experience integrating multi-omics datasets or developing multi-modal AI features Benefits
• Remote/Hybrid flexibility
• Comprehensive health/dental/vision plans
• 401k Plan
• Annual company wide meet-ups Company Overview
• Bioscope AI offers a cloud CDS platform using genomics and AI to generate patient-specific insights with supporting evidence. It was founded in 2017, and is headquartered in Carmel, Indiana, USA, with a workforce of 11-50 employees. Its website is Company H1B Sponsorship
• Bioscope AI has a track record of offering H1B sponsorships, with 1 in 2025. Please note that this does not guarantee sponsorship for this specific role. Apply tot his job

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