Allelic phenotype prediction of phenylketonuria based on the machine learning method.

ABSTRACT:

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.

Results

We identified 235 different mutations and 623 various allelic genotypes. The features extracted from the structure of mutations and graph properties of the PKU network to predict the phenotype of PKU were named PPML (PKU phenotype predicted by machine learning). The phenotype of PKU was classified into three different categories: classical PKU (cPKU), mild P

SUBMITTER: Fang Y 

PROVIDER: S-EPMC10064562 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature