Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes.

Chieh-Wen KuoWuh-Liang HwuYin-Hsiu ChienChing HsuMiao-Zi HungI-Lin LinFeipei LaiNi-Chung Lee

Published in: Molecular genetics & genomic medicine (2020)

This study was the first to provide Taiwanese population data of incidental findings and emphasized a high carrier rate of candidate pathogenic/likely pathogenic variants in the ATP7B gene.

Keyphrases

copy number
electronic health record
genome wide
big data
machine learning
dna methylation
deep learning