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AI Genomic Variant Classification Researcher

Wyatt Tanaka

Full-time · Job · Los_Angeles

About the role

Classifying genomic variants as pathogenic, benign, or variant of uncertain significance (VUS) is one of the most consequential ML problems in medicine — and one of the most underserved by good tooling. Clinical labs classify hundreds of variants per week, and the VUS rate for rare conditions is often 40-60%. That's 40-60% of patients who leave a genetic counseling session without the answer they came for. We're building the model that reduces that number. Our dataset spans 2.3 million curated variant classifications from ClinVar, gnomAD, and proprietary clinical lab partnerships. We need a senior researcher who can architect and train models that integrate sequence context, functional impact predictions, population frequency, and clinical literature signals into a unified pathogenicity score. You'll publish your work — we contribute to clinical genomics research — and you'll collaborate with clinical geneticists who'll tell you when your model is wrong and why. Expect to be challenged by domain experts who have classified variants for decades.

Responsibilities

  • Design and train models for genomic variant pathogenicity classification
  • Integrate multi-modal signals: sequence context, population frequency, clinical literature
  • Build evaluation frameworks calibrated to clinical performance standards
  • Collaborate with clinical geneticists to understand and encode domain knowledge
  • Publish research findings in clinical genomics or bioinformatics venues
  • Maintain model versioning aligned with ClinVar interpretation guideline updates

Requirements

  • 6+ years in ML research with applications in genomics or biomedical data
  • Deep understanding of variant interpretation frameworks like ACMG/AMP guidelines
  • Experience with large-scale genomic datasets and bioinformatics tooling
  • Strong Python and PyTorch skills with publication track record
  • Ability to collaborate effectively with clinical domain experts

Benefits

  • Fully remote with flexible schedule
  • Top-of-market compensation
  • Research conference budget
  • Comprehensive health coverage
  • Equity participation

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Categories

AI & Machine Learning Engineers data science & analytics

Skills

python pytorch scikit-learn pandas spark

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Job Type

Full-time

Level

Senior

Language

English

Salary Range

$160k – $200k / year

AI Expertise

AI & Machine Learning Engineers data science & analytics

Skills

python pytorch scikit-learn pandas spark aws

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