Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.

Liana K BillingsZhuqing ShiW Kyle ResurreccionChi-Hsiung WangJun WeiToni I PollinMiriam S UdlerJianfeng Xu

Published in: Endocrinology, diabetes & metabolism (2022)

Data from a large population-based study provided novel statistical evidence to identify 6 MODY genes as consistent with being highly penetrant. These results have potential implications for interpreting genetic testing results and clinical diagnosis of MODY.

Keyphrases

genome wide
bioinformatics analysis
genome wide identification
electronic health record
big data
genome wide analysis
dna methylation
machine learning
risk assessment