Staff Bioinformatics Scientist – Clinical Applications

This is a fully remote position, open to applicants in United States.

📋 Description

• Create and prototype automated methods for annotation, evidence synthesis, and pre-classification of germline variants for large-scale clinical applications.

• Assess and incorporate AI/ML methods, including extraction of literature evidence, mapping of disease to gene, and application of ACMG/AMP evidence guidelines, into production workflows.

• Supervise and evaluate the performance of automated pipelines against real-world metrics such as ClinVar reclassifications.

• Collaborate with engineers to develop APIs and data interfaces that connect secondary NGS outputs, such as VCFs and structural variant calls, with internal clinical reporting systems.

• Lead analytical validation studies to assess sensitivity, specificity, and reproducibility to ensure CLIA/CAP compliance and support LDT filings.

• Act as the scientific expert on automation and AI in the context of gene and variant curation.

• Collaborate with product, clinical, and engineering leaders to promote advancements in genomic medicine.

⛳️ Requirements

• Ph.D. in Bioinformatics, Computational Biology, Human Genetics, or a related discipline with over 5 years of experience in the clinical genomics industry.

• Extensive knowledge in human molecular genetics, ACMG/AMP variant interpretation guidelines, and clinical databases such as ClinVar and gnomAD.

• Advanced skills in genetic file formats, particularly VCF, and proficiency in data science tools like SQL and Python.

• Proven ability to assess new technical approaches, such as ML, LLMs, and innovative bioinformatics techniques, for practicality and impact.

• Effective in conveying technical trade-offs to non-technical and cross-functional audiences.

• Strong judgment in evaluating AI-generated analyses and recommendations for scientific validity and regulatory defensibility prior to influencing clinical decisions in production.

• Experience in a regulated environment, such as under CLIA/CAP or FDA (preferred).

• Experience in developing production-quality software (preferred).

• Experience mentoring or managing others, or a desire to grow as a people leader (preferred).

🏝️ Benefits

• Comprehensive Health Insurance eligible from the date of hire.

• Above-average employer-paid premium coverage.

• 12 weeks of Helix Paid Parental Leave available.

• 401(k) plan with employer matching of up to 3% and 100% vesting on the date of hire.

• Extensive Well-Being Benefits.

• Flexible Paid Time Off (PTO).

• Remote work options for many positions along with a home office stipend.

• Annual discretionary bonus equivalent to 15% of the annual salary.

• Equity opportunities.