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> Initializing PKU Genomics
> Loading research interface.
> Syncing variant database.
> Calibrating predictions.
> Platform webpage enabled.
> System ready. Begin exploration.
© Marco James
AI Genomics Research Tool
Predicting PAH variant severity and BH4 responsiveness using machine learning.
— Marco James
By the numbers
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PAH variants catalogued
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Phenotype classes predicted
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BH4 response accuracy
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Gene. Infinite complexity.
About the project
Phenylketonuria (PKU) is caused by mutations in the PAH gene. Over 900 variants are known — each producing a different severity, from classic PKU requiring lifelong dietary restriction to mild hyperphenylalaninaemia needing no treatment at all.
This tool uses machine learning to predict phenotype class and BH4 drug responsiveness from variant features — potentially reducing lengthy clinical trials.
Live model
Research tool only · Not for clinical use · Data from PAHdb McGill