[Hiring] Senior Bioinformatics Scientist/Engineer @Bioscope AI

This description is a summary of our understanding of the job description. Click on 'Apply' button to find out more. Role Description Join the AI-first team that is transforming precision medicine into everyday clinical practice. Our platform integrates whole-genome sequencing, microbiomics, electronic medical records, and AI reasoning to generate mechanism-based guidance for physicians. As a Senior Bioinformatics Scientist/Engineer, you will play a major role in designing, validating, and continuously improving clinical-grade pipelines across pharmacogenomics (PGx), polygenic risk scoring (PRS), and other WGS applications. You will be expected to produce production-grade tools capable of deriving clinical utility from raw genomic data. You'll work hand-in-hand with software engineers, medical subject matter experts, and regulatory leaders to deliver clinical grade interpretations directly in the hands of physicians. What You'll Own • Pipeline Design & Validation • 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. • Annotation & Interpretation • 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. • Data Quality & Compliance • Implement validation, reproducibility, and audit trails; pipeline change-control logs; briefing decks. • Collaboration & Mentorship • 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. Qualifications • 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. • 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 Qualifications • Exposure and familiarity 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. Success Metrics - First 12 Months • Production pipeline in your domain validated and integrated into the clinical decision-support platform by month 3. • Expanded clinical coverage—additional genes, conditions, or ancestry groups validated by month 6. • Active maintenance and iteration of your module with exploration of adjacent omics integrations by month 9. • Contribute significant improvements and optimizations across the broader genomics platform and bioinformatics infrastructure by month 12. Tech & Tool Stack • Python • Jupyter • REST APIs • AWS Batch/EKS/Lambda/ECS • AWS S3 • AWS Glue/Athena • PostgreSQL • Nextflow • DRAGEN • GATK • Stargazer/Cyrius • PharmCAT • PGS Catalog • PRS-CS • GitHub Actions • Docker Benefits • Remote/Hybrid flexibility • Comprehensive health/dental/vision plans • 401k Plan • Annual company wide meet-ups Apply tot his job Apply To this Job