Bioinformatics Scientist/Engineer

Bioscope AI•Boston, MA

20d•Hybrid

About The Position

Join the AI-first team that is transforming precision medicine into everyday clinical practice. Our platform integrates whole-genome sequencing, microbioimcs, electronic medical records, and AI reasoning to generate mechanism-based guidance for physicians. As a Bioinformatics Scientist/Engineer, you will contribute to the development and validation of clinical-grade pipelines across pharmacogenomics (PGx), polygenic risk scoring (PRS), and other WGS applications. You will develop tools that derive clinical utility from raw genomic data, working alongside software engineers, medical subject matter experts, and regulatory leaders to deliver clinical grade interpretations directly in the hands of physicians.

Requirements

MS (or BS with 3+ yrs experience) in Genetics, Genomics, Bioinformatics, Computational Biology, Statistical Genetics, or related field.
2+ yrs experience or academic training in one of the following: - Pharmacogenomics: star-allele calling, diplotype assignment, phenotype prediction - Polygenic risk scoring: GWAS analysis, PRS development, ancestry considerations
Familiarity with variant calling (DRAGEN, GATK) and functional annotation methods.
Proficiency in Python for reproducible analysis, data processing, and visualizations.
Experience with version control (Git) and collaborative software development practices.
Willingness to learn AWS services and cloud-based genomics workflows.
Comfortable with AI-based development tools (Claude Code, Cursor, OpenAI Agents).

Nice To Haves

Exposure to other omics (proteomics, epigenomics, transcriptomics).
Experience with pipeline frameworks.
Familiarity with clinical-grade databases.
Strong communication skills—able to explain genomic concepts to diverse audiences.

Responsibilities

Pipeline Development & Validation Develop and improve clinical genomics pipelines in your area of interest: - PGx track: Star-allele calling pipelines (e.g., CYP2D6, CYP2C19, DPYD, TPMT) handling structural variation and complex alleles. - PRS track: Polygenic risk score pipelines with multi-ancestry PRS models and clinical calibration. Support existing 30X WGS infrastructure for feature extraction and clinical annotation.
Annotation & Interpretation Help curate and maintain annotation stacks integrating domain-specific databases (PharmGKB, CPIC, PharmVar, PGS Catalog) and proprietary AI-derived knowledge graphs. Contribute to automated updates of clinical-grade knowledge sources.
Data Quality & Compliance Support validation, reproducibility, and audit trail implementation; assist with pipeline change-control documentation.
Collaboration Partner with software and AI engineers to integrate genomic features into AI models. Participate in cross-team design reviews and internal workshops.