Fig. 1: Recruitment workflow for the Acute Care Genomics program.
From: Integrated multi-omics for rapid rare disease diagnosis on a national scale
Critically ill infants and children with suspected genetic conditions were proposed to a national panel of experts, with those approved undergoing ultra-rapid WGS. Additional bioinformatic analyses and transcriptome sequencing were performed in all undiagnosed patients. Long-read sequencing and functional assays were deployed in selected cases. ICU, intensive care unit.
