Fig. 2
From: Genome sequencing as a generic diagnostic strategy for rare disease
Diagnostic referrals for genetic testing in 2022. In total, 24,570 individuals were referred, together requiring 36,633 data-generating experiments (in 23,604 individuals) in 11 different workflows, and 2072 reanalyses of existing (exome) datasets (in 966 individuals). Abbreviations: targeted next-generation sequencing ((t)NGS), deletion polymerase chain reaction (DelPCR), multiplex ligation-dependant probe amplification (MLPA), fluorescence in situ hybridization (FISH), exome sequencing (ES), long-read sequencing (LRS)