Article
Machine learning-based penetrance of genetic variants.
Science (New York, N.Y.) - 28 Aug 2025
Forrest Iain S, Vy Ha My T, Rocheleau Ghislain, Jordan Daniel M, Petrazzini Ben O, Nadkarni Girish N, Cho Judy H, Ganapathi Mythily, Huang Kuan-Lin, Chung Wendy K, Do Ron
Abstract excerpt
Accurate variant penetrance estimation is crucial for precision medicine. We constructed machine learning (ML) models for 10 diseases using 1,347,298 participants with electronic health records, then applied them to an independent cohort with linked exome data. Resulting probabilities were used to evaluate ML penetrance of 1648 rare variants in 31 autosomal dominant disease-predisposition genes. ML penetrance was...
Read the complete abstract on PubMedTopics
- Humans
- Penetrance
- Machine Learning
- Genetic Variation
- Genetic Predisposition to Disease
- Electronic Health Records