Clinical severity prediction in children with osteogenesis imperfecta caused by COL1A1/2 defects.

Lin YangBo LiuXinran DongJing WuChengjun SunLi XiRuoqian ChengBingbing WuHuijun WangShiyuan TongDahui WangFei-Hong Luo

Published in: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA (2022)

We established an OI severity prediction model depending on multiple features of the specific variants in COL1A1/2 genes, with a prediction accuracy of 76-88%. This prediction algorithm is a promising alternative that could prove to be valuable in clinical practice.

Keyphrases

clinical practice
machine learning
young adults
copy number
gene expression
dna methylation
neural network