Clinical utility of regions of homozygosity (ROH) identified in exome sequencing: when to pursue confirmatory uniparental disomy testing for imprinting disorders?

Xiaoyan HuoXinyi LuDeyun LuHuili LiuYi LiuQianfeng ZhaoYu SunWeiqian DaiWenjuan QiuYong-Guo YuYanjie Fan

Published in: Clinical chemistry and laboratory medicine (2024)

ROH identified in ES could implicate the presence of clinically relevant UPD. This study recommended size and coverage thresholds for confirmatory UPD testing after ROH detection in ES, contributing to the development of evidence-based reporting guidelines.

Keyphrases

single cell
clinical practice
emergency department
copy number
healthcare
gene expression
loop mediated isothermal amplification
adverse drug
label free
affordable care act
real time pcr
electronic health record