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. Author manuscript; available in PMC: 2021 Apr 23.
Published in final edited form as: Genet Med. 2020 Oct 23;23(2):259–271. doi: 10.1038/s41436-020-00984-z

Figure 1. Details of the 240 diagnoses.

Figure 1.

The beige portions of the bars indicate diagnoses that were made in a straightforward manner from ES/GS that was performed by the UDN sequencing core with integration of the phenotype by the UDN clinical sites. The 57 diagnoses (24%) that were due to UDN ES and 27 diagnoses (11%) that were due to UDN GS are similar to what could be accomplished in a regular genetics clinic. The green portions indicate diagnoses that were made with additional UDN-driven investigations that are difficult to accomplish in regular clinical settings.. In aggregate the majority of diagnoses (n= 156 of 240, 65%) occurred due to the additional and most often multiple UDN-driven investigations, initiated at the clinical sites.