Note: The job is a remote job and is open to candidates in USA. Helix is hiring a Staff Bioinformatics Scientist, Clinical Applications to bridge genomic variants with clinically useful answers. The role develops and evaluates automated and AI/ML approaches for germline variant curation, connects genomic data to clinical reporting tools, and leads analytical validation for regulatory compliance.

Responsibilities

• Design and prototype automated approaches to annotation, evidence synthesis, and pre-classification of germline variants that can support clinical applications at scale
• Evaluate and integrate AI/ML approaches, such as evidence extraction from literature, disease-to-gene mapping, and application of ACMG/AMP evidence guidelines, into production pipelines
• Monitor and benchmark the performance of automated pipelines against real-world outcomes, such as ClinVar reclassifications, over time
• Work cross-functionally with engineers to build APIs and data interfaces that connect secondary NGS outputs, such as VCFs and structural variant calls, to internal clinical reporting tools
• Lead analytical validation studies, evaluating sensitivity, specificity, and reproducibility, to support CLIA/CAP compliance and LDT filings

Skills

• Ph.D. in Bioinformatics, Computational Biology, Human Genetics, or a related field with 5+ years of clinical genomics industry experience
• Deep expertise in human molecular genetics, ACMG/AMP variant interpretation guidelines, and clinical databases such as ClinVar and gnomAD
• Advanced proficiency in genetic file formats, especially VCF, and data science tools such as SQL and Python
• Demonstrated ability to evaluate emerging technical approaches, such as ML, LLMs, and novel bioinformatics methods, for feasibility and impact
• Skilled at communicating technical tradeoffs to non-technical and cross-functional stakeholders
• Strong judgment evaluating AI-generated analyses and recommendations for scientific validity and regulatory defensibility before they inform clinical decisions in production
• Experience in a regulated environment, such as under CLIA/CAP or FDA
• Experience building production-quality software
• Experience mentoring or managing others, or an interest in developing as a people leader

Benefits

• Comprehensive Health Insurance with Date of Hire eligibility
• Above average employer paid premium coverage
• 12 weeks Helix Paid Parental Leave option
• 401(k) with employer matching of up to 3% and 100% Vesting on the Date of Hire
• Comprehensive Well-Being Benefits
• Flexible PTO
• Remote options for many roles and a home office stipend

Company Overview

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