Staff Bioinformatics Scientist, Clinical Applications
Helix
Summary
You'll bridge the gap between genomic variants and the clinical answers that help patients act on their DNA. You'll serve as the scientific authority on automation and AI for gene and variant curation. You'll work closely with product, clinical, and engineering leaders who are pushing genomic medicine forward.
Job description
What is special about this role?
You'll bridge the gap between genomic variants and the clinical answers that help patients act on their DNA. You'll serve as the scientific authority on automation and AI for gene and variant curation. You'll work closely with product, clinical, and engineering leaders who are pushing genomic medicine forward.
As a Staff Bioinformatics Scientist, Clinical Applications, you will:
- 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.
About you:
- 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.
Pluses:
- Experience in a regulated environment, such as under CLIA/CAP or FDA.
- Experience building production-quality software.
- This role may have the opportunity to take on people leadership responsibilities in the future. Experience mentoring or managing others, or an interest in developing as a people leader, is a plus.
Requirements
- Ph.D. in Bioinformatics, Computational Biology, Human Genetics, or a related field
- 5+ years of clinical genomics industry experience
- Deep expertise in human molecular genetics
- ACMG/AMP variant interpretation guidelines
- Clinical databases such as ClinVar and gnomAD
- Advanced proficiency in genetic file formats, especially VCF
- Data science tools such as SQL and Python
- Demonstrated ability to evaluate emerging technical approaches such as ML, LLMs, and novel bioinformatics methods
- Skilled at communicating technical tradeoffs to non-technical and cross-functional stakeholders
- Strong judgment evaluating AI-generated analyses for scientific validity and regulatory defensibility
Benefits
- Comprehensive Health Insurance
- Paid Parental Leave
- 401(k) Matching
- Well-Being Benefits
- Flexible PTO
- Home Office Stipend
Company overview
Helix is a leading consumer genomics company that operates a population genomics platform focused on empowering individuals with personalized genetic insights. Founded with the mission to make DNA sequencing more accessible and actionable, Helix has established itself as a pioneer in the direct-to-consumer genomics space. The company operates a CLIA-certified and CAP-accredited laboratory where it performs whole exome sequencing, providing comprehensive genetic data that can be used for various health and wellness applications. Helix partners with multiple third-party applications and services that offer personalized reports on ancestry, health risks, carrier status, wellness traits, and pharmacogenomics. The company's unique business model involves sequencing a customer's DNA once and then allowing them to access multiple genetic insights through various partner applications over time. Helix has played a significant role in advancing population genomics research through partnerships with academic institutions and healthcare organizations, contributing to large-scale genomic studies aimed at understanding genetic variations and their implications for human health. The company emphasizes data privacy and security, giving customers control over their genetic information while providing educational resources to help them understand their genetic results.