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. 2022 Jul 20;607(7920):732–740. doi: 10.1038/s41586-022-04965-x

Table 1.

Overlap of WES and WGS data

 Annotation WGS WES Intersection of WGS and WES Unique to WES Present WES (%) Missing WES (%) Present WGS (%) Missing WGS (%)
Coding 6,380,795 5,781,829 5,686,934 94,895 89.29 10.71 98.53 1.47
Splice 445,499 397,226 388,961 8,265 87.54 12.46 98.18 1.82
5′ UTR 2,125,413 590,484 572,996 17,488 27.56 72.44 99.18 0.82
3′ UTR 7,214,427 764,864 743,790 21,074 10.57 89.43 99.71 0.29
Proximal 249,702,570 6,189,465 5,952,145 237,320 2.48 97.52 99.91 0.09
Intergenic 292,259,782 91,836 83,360 8,476 0.03 99.97 More than 99.99 Less than 0.01

Results are computed for the 109,618 samples present in both datasets and are limited to those variants that are present in at least one individual in either dataset. Numbers refer to the number of variants found in the dataset. WGS refers to the GraphTyperHQ dataset and WES refers to a set of 200,000 WES-sequenced indivdiduals59. Missing and present percentages are computed from the number of variants in the union of the two datasets.