AI Bioinformatics Benchmarking Engineer

Posted 3 Hours Ago
Be an Early Applicant
Hiring Remotely in United States
Remote
Mid level
Big Data • Healthtech • Software • Biotech
The Role
Design, implement, and run automated benchmarking and validation pipelines for AI-driven genomic interpretation. Expand regression datasets, execute large-scale validation across curated VCFs, surface accuracy regressions, build automated QA for AI releases, and integrate validation into CI/CD with dashboards and documented failure modes.
Summary Generated by Built In
Sequencing is building the interface between humanity and its DNA.

Using clinical-grade whole genome sequencing, AI, and a rapidly expanding ecosystem of genomic applications, we help people better understand themselves, their health, and their future through their DNA.

The human genome is one of the most valuable and underutilized resources in the world. Our mission is to transform the human genome into a lifelong source of personalized guidance and build the trusted home for every genome on Earth.

As the world’s largest direct-to-consumer whole genome sequencing platform, Sequencing is helping define the future of AI-powered personalized health.

We’re a profitable, venture-backed, fully remote company building category-defining products that help people better understand themselves through their DNA.

The Position

At Sequencing, you'll build and operate the evaluation and validation infrastructure that keeps our AI systems correct, reliable, and regression-protected. This is an execution-focused role: you'll design, implement, and maintain the benchmarking systems that continuously test AI outputs against curated genomic datasets, partnering closely with the AI Bioinformatics Engineering Lead to turn interpretation standards into measurable, operational systems. You are detail-oriented, have a systems-thinking mindset and you notice the one VCF out of ten thousand that doesn't look right

The Impact

  • Build and run automated evaluation pipelines for AI outputs end-to-end.
  • Expand regression datasets that cover variant normalization, transcript ambiguity, and disease-level mapping.
  • Execute large-scale validation runs across curated VCF datasets, track performance over time, and surface accuracy regressions the moment they appear.
  • Grow a structured question bank using and related datasets, encoding the edge cases that matter most.
  • Ship automated regression tests for every AI release and build dashboards that make variant-level and case-level accuracy visible to the whole team.
  • Partner with engineering to wire validation directly into CI/CD, and diagnose and document failure modes as they emerge.

Dominant and Recessive Traits

  • Degree in Bioinformatics, Computational Biology, Genetics, or a related field.
  • Deep, hands-on experience with VCFs and real-world genomic datasets.
  • Fluency with ClinVar, dbSNP, HGVS standards, and transcript mapping.
  • A track record building evaluation frameworks or testing pipelines, Langfuse or similar.
  • Experience evaluating LLM-based systems and standing up automated QA at scale.
.

Benefits Overview
  • Comprehensive medical, dental, and vision insurance coverage
  • 401(k) with company matching
  • Paid time off (PTO)
  • Paid volunteer time off
  • Fully remote work with home office stipend
  • Parental bonding leave
  • Clinical-grade whole genome sequencing for you and your family (private and confidential)

Join Sequencing
  • Redefine how people understand themselves through their DNA
  • Build category-defining products alongside scientists, engineers, and innovators
  • Contribute to technology that will improve and extend millions of lives
  • Shape one of the most important emerging categories in AI and healthcare

Sequencing Inc. is an equal opportunity employer. All aspects of employment, including the decision to hire, promote, discipline, or discharge, will be based on merit, competence, performance, and business needs. We do not discriminate based on race, color, religion, marital status, age, national origin, ancestry, physical or mental disability, medical condition, pregnancy, genetic information, gender, sexual orientation, gender identity or expression, veteran status, or any other status protected under federal, state, or local law.

Sequencing Inc. may use artificial intelligence (AI) or automated tools as part of the recruiting and hiring process, including for application screening and candidate evaluation. These tools may analyze information provided in your application materials or during the hiring process. Where required by applicable law, candidates may request a reasonable accommodation or an alternative selection process by contacting [email protected].

Skills Required

  • Degree in Bioinformatics, Computational Biology, Genetics, or a related field
  • Deep, hands-on experience with VCFs and real-world genomic datasets
  • Fluency with ClinVar, dbSNP, HGVS standards, and transcript mapping
  • Track record building evaluation frameworks or testing pipelines (Langfuse or similar)
  • Experience evaluating LLM-based systems and standing up automated QA at scale
  • Detail-oriented with a systems-thinking mindset
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The Company
39 Employees
Year Founded: 2017

What We Do

Sequencing.com is a genomics platform that provides clinical-grade whole genome sequencing, at-home DNA kits, and free lifetime DNA data storage. The company offers an app/report marketplace, AI-enabled interpretation, and personalized health, wellness, and ancestry reports produced from WGS data, with emphasis on privacy and ongoing updates to drive actionable insights for prevention and personalized care.

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