Article
DTreePred: an online viewer based on machine learning for pathogenicity prediction of genomic variants.
BMC bioinformatics - 9 Apr 2025
Gomes Daniel Henrique Ferreira, Medeiros Inácio Gomes, Petta Tirzah Braz, Stransky Beatriz, de Souza Jorge Estefano Santana
Abstract excerpt
BACKGROUND: A significant challenge in precision medicine is confidently identifying mutations detected in sequencing processes that play roles in disease treatment or diagnosis. Furthermore, the lack of representativeness of single nucleotide variants in public databases and low sequencing rates in underrepresented populations pose defies, with many pathogenic mutations still awaiting discovery. Mutational...
Read the complete abstract on PubMedTopics
- Machine Learning
- Humans
- Algorithms
- Software
- Genomics
- Mutation
- Genetic Variation
