Article
Allelic phenotype prediction of phenylketonuria based on the machine learning method.
Human genomics - 31 Mar 2023
Fang Yang, Gao Jinshuang, Guo Yaqing, Li Xiaole, Yuan Enwu, Yuan Erfeng, Song Liying, Shi Qianqian, Yu Haiyang, Zhao Dehua, Zhang Linlin
Abstract excerpt
BACKGROUND: Phenylketonuria (PKU) is caused by mutations in the phenylalanine hydroxylase (PAH) gene. Our study aimed to predict the phenotype using the allelic genotype. METHODS: A total of 1291 PKU patients with 623 various variants were used as the training dataset for predicting allelic phenotypes. We designed a common machine learning framework to predict allelic genotypes associated with the phenotype....
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