[Hiring] Senior Bioinformatics Scientist/Engineer @Bioscope AI

🌍 Remote, USA 🎯 Full-time 🕐 Posted Recently

Job Description

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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.

Pipeline Design & Validation
Architect and optimize clinical genomics pipelines in your area of expertise:
PGx track:

PRS track:

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.

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 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.

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.