Fig. 2
From: International Undiagnosed Diseases Programs (UDPs): components and outcomes
Possible research diagnostic pathways in an Undiagnosed Diseases Program. Figure adapted from [1, 70]. Multiomics refers to the integrated analysis of various sources of information, such as the genomic sequence, transcriptomic datasets, and metabolomic datasets. ES, exome sequencing; GUS, gene of uncertain significance; LP/P, likely pathogenic/pathogenic; RNA, ribonucleic acid; VUS, variant of uncertain significance; WGS, whole genome sequencing.