Staff Bioinformatics Scientist – Clinical Applications

🔥 1 minute ago

🇺🇸 United States – Remote

💵 $146k - $196.3k / year

⏰ Full Time

🔴 Lead

🧪 Clinical Research

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This company has sponsored H1B visas in the past.

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Helix

WebsiteLinkedInAll Job Openings

51 - 200 employees

🏥 Healthcare

🧬 Biotechnology

⚕️ Healthcare Insurance

Healthcare • Biotechnology • Healthcare Insurance

Helix is a company that specializes in integrating genomics into healthcare. By providing access to genetic insights and genomics solutions, Helix empowers health systems, public health, and life sciences companies to incorporate genomics into their operations. This enhances medical research, diagnosis, treatment, and prevention, enabling more personalized and effective healthcare. Helix collaborates with partners such as Sanford Health to expand genomics initiatives, making genomics actionable and accessible, thereby improving preventive care and patient outcomes. Helix's services are designed to support providers, patients, and health systems in navigating the genetic testing process, offering comprehensive solutions across the genomics landscape.

📋 Description

• Design and prototype automated approaches to annotation, evidence synthesis, and pre-classification of germline variants for clinical applications at scale • Evaluate and integrate AI/ML approaches, including literature evidence extraction, disease-to-gene mapping, and ACMG/AMP evidence guideline application, into production pipelines • Monitor and benchmark automated pipeline performance against real-world outcomes such as ClinVar reclassifications • Work cross-functionally with engineers to build APIs and data interfaces connecting secondary NGS outputs, including 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 • Serve as the scientific authority on automation and AI for gene and variant curation • Partner with product, clinical, and engineering leaders advancing genomic medicine

🎯 Requirements

• 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 (plus) • Experience building production-quality software (plus) • Experience mentoring or managing others, or an interest in developing as a people leader (plus)

🏖️ 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 • Annual discretionary bonus of 15% of annual salary • Equity

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