Prevalence of Wilson disease based on genome databases in Japan.

Hiroshi YamaguchiHiroaki NagaseShoichi TokumotoKazumi TomiokaMasahiro NishiyamaHiroki TakedaTakeshi NinchojiChina NaganoKazumoto IijimaKandai Nozu

Published in: Pediatrics international : official journal of the Japan Pediatric Society (2021)

This is the first study to report the carrier frequency of ATP7B variants and the prevalence of WD in Japan using multiple databases. The calculated prevalence of WD was comparatively higher than that of previous reports, indicating previous underdiagnosis or the existence of less severe phenotypes.

Keyphrases

risk factors
big data
emergency department
copy number
machine learning