Fig. 2: Patient recruitment and key characteristics.
From: Integrated multi-omics for rapid rare disease diagnosis on a national scale
a, Recruitment sites. NT, Northern Territory; QLD, Queensland; WA, Western Australia; ACT, Australian Capital Territory; NSW, New South Wales; SA, South Australia; VIC, Victoria; TAS, Tasmania. b, Study workflow, including patient selection using guidelines and virtual expert panel; electronic resources to support test ordering and consent; sample shipping; diagnostic reporting; and extended analysis and multi-omic approaches in unsolved cases. c, Age of study participants. d, Ancestry/ethnicity of participants. e, Twenty most common HPO terms, coded by major groups.
