Article
Prediction of the Phenotype of Human Missense Mutations with an Ensemble of Deep Neural Networks.
Methods in molecular biology (Clifton, N.J.) - 1 Jan 2026
Faraggi Eshel, Jernigan Robert L, Kloczkowski Andrzej
Abstract excerpt
Rapid progress in the area of LLM and ML has increased the likelihood of clinical use for methods that predict the effects of genetic variations. Methods that can quickly obtain such predictions and enable rapid evaluation of the effects of residue changes in the genome will enable clinicians to better understand and treat the phenotypes presented in the clinic. Here, we present a new method to rapidly predict...
Read the complete abstract on PubMedTopics
- Humans
- Mutation, Missense
- Phenotype
- Neural Networks, Computer
- Computational Biology
- Prediction Algorithms
