What are the responsibilities and job description for the Senior Bioinformatics Scientist/Engineer position at Bioscope AI?
Position Title: Senior Bioinformatics Scientist/Engineer
Location: Carmel, IN (preferred) / Boston, MA / U.S. Remote available
Employment Type: Full-time
Role Overview
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:
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.
Minimum Qualifications
Python
Remote/Hybrid flexibility
Location: Carmel, IN (preferred) / Boston, MA / U.S. Remote available
Employment Type: Full-time
Role Overview
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.
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.
Minimum 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).
- 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.
- 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.
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
Remote/Hybrid flexibility
- Comprehensive health/dental/vision plans
- 401k Plan
- Annual company wide meet-ups