. 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

Table 3.

Diagnoses made by ES or GS (190 of 240 diagnoses)

Sequencing and other efforts	Diagnoses on ES= 116			Diagnoses on GS= 74		Totals
Sequencing and other efforts	Pre-UDN ES data reanalysis at clinical sites	ES through UDN sequencing core	Clinical site dual analysis of UDN ES data	GS through UDN sequencing core	Clinical site dual analysis of UDN GS data	Totals
Straightforward ES/GS diagnoses	0	57^a	n/a ^b	27^a	n/a ^b	84 (44%)
UDN investigations beyond ES/GS required for diagnosis^c	23^d	29	7^d	38	9^d	106 (56%)
Totals	23	86	7	65	9	190

Diagnoses that were made on ES or GS through the UDN in a straightforward manner, by reconciling the ES or GS results with the phenotype, similar to a clinical genetics setting. The remainder (n=106) needed UDN-driven investigations.

When the diagnosis was identified by both the UDN sequencing core laboratory and on clinical site analysis, attribution was given to the UDN sequencing core.

Details of additional investigations may be found in Table S1.

Diagnoses (n= 39, 21%) solely attributed to UDN clinical sites’ innovative research analyses of the ES and GS data.