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Bioscope AI · 17 hours ago

Bioinformatics Scientist/Engineer

Carmel, IN

Full-time

Hybrid

Entry, Mid Level

2+ years exp

Bioscope AI is an innovative company focused on transforming precision medicine through AI technology. They are seeking a Bioinformatics Scientist/Engineer to develop and validate clinical-grade genomic pipelines, contributing to pharmacogenomics and polygenic risk scoring applications.

Artificial Intelligence (AI)BiotechnologyCloud ComputingEnterprise SoftwareGeneticsHealth CareHealth DiagnosticsMedicalPrecision MedicineSaaS

H1B Sponsor Likely

Responsibilities

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

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

Support validation, reproducibility, and audit trail implementation; assist with pipeline change-control documentation

Partner with software and AI engineers to integrate genomic features into AI models

Participate in cross-team design reviews and internal workshops

Qualification

BioinformaticsPharmacogenomicsPolygenic risk scoringPythonVariant callingAWS servicesVersion control (Git)Exposure to other omicsCommunication skillsCollaboration

Required

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

2+ yrs experience or academic training in one of the following: 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)

Preferred

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

Benefits

Remote/Hybrid flexibility

Comprehensive health/dental/vision plans

401k Plan

Annual company wide meet-ups

Company

Bioscope AI

Bioscope AI offers a cloud CDS platform using genomics and AI to generate patient-specific insights with supporting evidence.

Founded in 2017

Carmel, Indiana, USA

11-50 employees

https://www.bioscope.ai

H1B Sponsorship

Bioscope AI has a track record of offering H1B sponsorships. Please note that this does not guarantee sponsorship for this specific role. Below presents additional info for your reference. (Data Powered by US Department of Labor)

Distribution of Different Job Fields Receiving Sponsorship

Represents job field similar to this job

Trends of Total Sponsorships

2025 (1)

Funding

Current Stage

Early Stage

Recent News

Newswire

Bioscope.AI Announces the "Try It on Yourself" Program Allowing Physicians to Use Artificial Intelligence and Genomics to Analyze Their Own Health

2025-10-22

Company data provided by crunchbase