Bioinformatics Engineer
Sequencing · United States
- Hybrid
- Full-time
- $150,000 / year
- United States
Job highlights
- Lead AI system logic for gene, disease, and variant mapping.
- Design genomic data interpretation in AI workflows.
- Define accuracy thresholds and release criteria for AI.
- Develop evaluation and benchmarking strategies for AI.
- Collaborate with AI, Bioinformatics, Product, and Engineering.
About the role
Bioinformatics Engineer
Sequencing.com is a profitable, Series A company at the intersection of biotech, genomics, and personalized health. As the world’s largest direct-to-consumer genomics platform, our mission is to power the future of personalized health by making whole genome sequencing and interpretation accessible, actionable, and meaningful for everyone. We partner with healthcare professionals, research organizations, and consumer wellness platforms to deliver deep genomic insights through our advanced data and bioinformatics platform. We are venture-backed, rapidly scaling, and assembling a team that is excited to build products that change the world.
The Position
The AI Bioinformatics Engineering Lead will sit within the AI team and collaborate closely with backend engineering, bioinformatics, and product leaders to shape how genomic data is evaluated and validated. Your success will be measured by robust evaluation and benchmarking strategies, clear accuracy thresholds, and production releases that consistently meet predefined correctness standards over time.
The Impact
- Own gene, disease, and variant mapping logic in the AI system.
- Design and maintain how genomic data is used and interpreted in AI workflows.
- Define approaches for handling complex and edge-case genomic scenarios.
- Set measurable accuracy thresholds for AI-powered features.
- Define release criteria that AI features must meet before going live.
- Lead the overall evaluation and benchmarking strategy for AI outputs.
- Establish regression standards so future changes preserve or improve accuracy.
- Partner with the AI Bioinformatics Benchmarking Engineer on automated validation.
- Approve validation criteria that determine when AI features are ready for release.
- Work closely with AI, Bioinformatics, Product, and Engineering leaders on system design.
- Recommend where deterministic logic should supplement model behavior in production.
- Ensure interpretation logic can be maintained and updated as new genomic knowledge appears.
Dominant and Recessive Traits
- 5+ years experience and advanced degree in Bioinformatics, Computational Biology, or a closely related field.
- Strong experience with VCFs and complex genomic datasets.
- Familiarity with ClinVar, dbSNP, HGVS standards, transcript databases, and variant classification.
- Systems-level leadership that defines standards and frameworks for correctness.
- Experience working with production software engineering teams.
- Experience collaborating with AI or LLM-based systems.
- Experience setting or contributing to evaluation and benchmarking frameworks.
- Comfortable working fully remote as part of a distributed team.
Key skills/competency
- Bioinformatics
- Genomics
- Personalized Health
- AI
- LLM
- VCFs
- Genomic Data
- Variant Classification
- Benchmarking
- Software Engineering
Skills & topics
- Bioinformatics Engineer
- Bioinformatics
- Genomics
- AI
- LLM
- VCF
- Genomic Data
- Variant Classification
- Benchmarking
- Software Engineering
- Computational Biology
- Personalized Health
- Sequencing
- Biotech
How to get hired
- Tailor your resume: Highlight your 5+ years of experience in Bioinformatics, Computational Biology, and familiarity with genomic datasets (VCFs, ClinVar, dbSNP, HGVS).
- Showcase leadership: Emphasize experience in defining correctness standards, working with production software engineering teams, and collaborating with AI/LLM systems.
- Demonstrate domain expertise: Detail your experience with evaluation and benchmarking frameworks for AI outputs and genomic data interpretation.
- Express remote work readiness: Clearly state your comfort and experience working fully remote within a distributed team environment.
- Prepare for technical questions: Be ready to discuss your approach to handling complex genomic scenarios and setting accuracy thresholds for AI features.
Technical preparation
Master VCFs and complex genomic datasets.,Understand ClinVar, dbSNP, HGVS standards.,Familiarize with AI/LLM system collaboration.,Practice defining accuracy and regression standards.
Behavioral questions
Describe leading evaluation strategies for AI.,How do you ensure genomic data correctness?,Discuss collaboration with engineering teams.,How do you handle edge cases in data?
Frequently asked questions
- What is the primary focus of the AI Bioinformatics Engineering Lead role at Sequencing.com?
- The AI Bioinformatics Engineering Lead at Sequencing.com will own the gene, disease, and variant mapping logic within the AI system. This involves designing and maintaining how genomic data is used and interpreted in AI workflows, defining accuracy thresholds, and leading the overall evaluation and benchmarking strategy for AI outputs.
- What are the key technical skills required for the Bioinformatics Engineer position at Sequencing.com?
- Key technical skills include strong experience with VCFs and complex genomic datasets, familiarity with ClinVar, dbSNP, HGVS standards, transcript databases, and variant classification. Experience collaborating with AI or LLM-based systems is also crucial.
- Is this a remote position at Sequencing.com?
- Yes, this position is comfortable working fully remote as part of a distributed team at Sequencing.com.
- What kind of experience is expected for the AI Bioinformatics Engineering Lead role?
- The role requires 5+ years of experience and an advanced degree in Bioinformatics, Computational Biology, or a closely related field. Experience with systems-level leadership, defining standards for correctness, working with production software engineering teams, and setting up evaluation/benchmarking frameworks is expected.
- How does Sequencing.com approach the validation of AI features?
- Sequencing.com focuses on robust evaluation and benchmarking strategies, setting clear accuracy thresholds, and establishing regression standards. The AI Bioinformatics Engineering Lead will partner with a Benchmarking Engineer and approve validation criteria to ensure AI features meet predefined correctness standards before release.
- What is the company mission at Sequencing.com?
- Sequencing.com's mission is to power the future of personalized health by making whole genome sequencing and interpretation accessible, actionable, and meaningful for everyone.