Bioscope AI · 20 hours ago
Senior Bioinformatics Scientist/Engineer
United States
Full-time
Remote
Mid, Senior Level
4+ years expBioscope AI is an innovative company focused on transforming precision medicine through advanced genomic technologies. The Senior Bioinformatics Scientist/Engineer will design and validate clinical-grade pipelines for pharmacogenomics and polygenic risk scoring, collaborating with software engineers and medical experts to derive clinical utility from genomic data.
Artificial Intelligence (AI)BiotechnologyCloud ComputingEnterprise SoftwareGeneticsHealth CareHealth DiagnosticsMedicalPrecision MedicineSaaS
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
Qualification
Required
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)
Preferred
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
Bioscope AI
Bioscope AI offers a cloud CDS platform using genomics and AI to generate patient-specific insights with supporting evidence.
11-50 employees
H1B Sponsorship
Bioscope AI has a track record of offering H1B sponsorships. Please note that this does not
guarantee sponsorship for this specific role. Below presents additional info for your
reference. (Data Powered by US Department of Labor)
Distribution of Different Job Fields Receiving Sponsorship
Represents job field similar to this job
Trends of Total Sponsorships
2025 (1)
Funding
Current Stage
Early StageRecent News
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