About the job
Position Title: Bioinformatics Scientist/Engineer
Location: Carmel, IN (preferred) / Boston, MA
Employment Type: Full-time
Role Overview
Become a key player in our pioneering AI-driven team that is revolutionizing precision medicine and its integration into everyday clinical practice. Our innovative platform merges whole-genome sequencing, microbiomics, electronic medical records, and advanced AI reasoning to provide mechanism-based guidance for healthcare professionals.
As a Bioinformatics Scientist/Engineer, you will play a crucial role in the development and validation of clinical-quality pipelines across pharmacogenomics (PGx), polygenic risk scoring (PRS), and various whole-genome sequencing (WGS) applications.
You will create tools that extract clinical significance from raw genomic data, collaborating with software engineers, medical experts, and regulatory authorities to ensure clinical-grade interpretations are delivered directly to physicians.
What You'll Contribute To
Pipeline Development & Validation Enhance and refine clinical genomics pipelines within your area of expertise:
- PGx track: Develop star-allele calling pipelines (e.g., CYP2D6, CYP2C19, DPYD, TPMT) capable of handling structural variations and complex alleles.
- PRS track: Create polygenic risk score pipelines featuring multi-ancestry models and clinical calibration.
Support our existing 30X WGS infrastructure for feature extraction and clinical annotations.
Annotation & Interpretation Assist in curating and maintaining annotation stacks that incorporate domain-specific databases (PharmGKB, CPIC, PharmVar, PGS Catalog) and our proprietary AI-driven knowledge graphs. Participate in the automation of updates for clinical-grade knowledge sources.
Data Quality & Compliance Help ensure validation, reproducibility, and the establishment of audit trails; assist in documenting pipeline change control processes.
Collaboration Work closely with software and AI engineers to integrate genomic features into AI models. Engage in cross-team design reviews and workshops.

