Clinical utility of regions of homozygosity (ROH) identified in exome sequencing: when to pursue confirmatory uniparental disomy testing for imprinting disorders?
Clin Chem Lab Med. 2024 Jul 19. doi: 10.1515/cclm-2024-0239. Online ahead of print. ABSTRACT OBJECTIVES: Regions of homozygosity (ROH) could implicate uniparental disomy (UPD) on …