Table 1.
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.