Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing

Figure 1

Overall diagnostic rate and variables affecting diagnostic yield in SDD and MGD cases: (a) overall diagnostic rate for SDD and MGD; (b) diagnostic yield vs. sex; (c) diagnostic yield vs. with (W) or without (W/O) prior testing; (d) diagnostic yield vs. age group. Abbreviations: DD: definitive diagnosis; VUS: variants of uncertain significance; SDD: single definitive diagnosis; MGD: multiple genetic diagnoses; DMGD: definitive multiple genetic diagnoses; PMGD: presumed multiple genetic diagnoses; ns: not significant; value < 0.05; value < 0.001.

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