Bioscope AI

Senior Bioinformatics Scientist/Engineer

Bioscope AI

full-time

Posted on:

Location Type: Hybrid

Location: Carmel • Massachusetts • United States

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Job Level

Senior

Tech Stack

AWSPython

About the role

  • Join the AI-first team that is transforming precision medicine into everyday clinical practice.
  • Play a major role in designing, validating, and continuously improving clinical-grade pipelines across pharmacogenomics (PGx), polygenic risk scoring (PRS), and other WGS applications.
  • Produce production-grade tools capable of deriving clinical utility from raw genomic data.
  • 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.
  • Architect and optimize clinical genomics pipelines in your area of expertise: PGx track and PRS track.
  • Curate and maintain annotation stacks integrating domain-specific databases and proprietary AI-derived knowledge graphs.
  • 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.

Requirements

  • 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).
Benefits
  • Remote/Hybrid flexibility
  • Comprehensive health/dental/vision plans
  • 401k Plan
  • Annual company wide meet-ups
Applicant Tracking System Keywords

Tip: use these terms in your resume and cover letter to boost ATS matches.

Hard Skills & Tools
pharmacogenomicspolygenic risk scoringvariant callingstructural variant detectioncopy number variant detectionfunctional annotation methodsPythonREST APIstatistical analysisvisualizations
Soft Skills
collaborationcommunicationdocumentationvalidationreproducibilityaudit trailschange controldesign reviewsworkshopsproblem-solving
Certifications
PhD in GeneticsPhD in GenomicsPhD in BioinformaticsPhD in Computational BiologyMS in related field