Table 2.
The number of variants discovered in WEGS sequencing data from 862 patients with peripheral artery disease.
| All Individuals (N = 862) | Per Individual | |||
|---|---|---|---|---|
| Total | Singletons | Rare (MAF < 1%) | Average | |
| Depth at non-targeted regions (X) | -- | -- | -- | 4.5 ( ± 0.88) |
| Depth at targeted regions (X) | -- | -- | -- | 114.8 ( ± 4.47) |
| Total variants | 44,747,114 | 14,542,812 | 32,497,956 | 2,964,080 |
| SNVs | 33,505,105 | 11,291,220 | 24,576,783 | 2,587,752 |
| InDels | 11,242,009 | 3,226,457 | 7,921,173 | 449,829 |
| Novel variants | 12,893,703 | 8,226,183 | 12,712,777 | 26,984 |
| SNVs | 9,363,157 | 5,739,615 | 9,233,592 | 18,922 |
| InDels | 3,530,546 | 2,481,974 | 3,529,310 | 8062 |
| Coding variants | 348,410 | 181,870 | 284,434 | 23,854 |
| Synonymous | 123,337 | 57,968 | 94,275 | 11,053 |
| Non-synonymous | 205,570 | 113,475 | 173,546 | 11,636 |
| Stop/essential splice | 3967 | 2325 | 3426 | 490 |
| Frameshift | 7375 | 4484 | 6520 | 298 |
| Inframe | 8069 | 3566 | 6589 | 371 |
| Novel coding variants | 31,821 | 28,448 | 31,713 | 66 |
| Synonymous | 7680 | 6920 | 7,675 | 11 |
| Non-synonymous | 19,761 | 17,884 | 19,731 | 31 |
| Stop/essential splice | 1071 | 865 | 1045 | 12 |
| Frameshift | 2166 | 1897 | 2159 | 8 |
| Inframe | 1106 | 872 | 1067 | 7 |
This table reports the total number of sequenced variants in the overall patient group and the average number of sequenced variants per individual across different functional classifications. Novel variants were defined as variants not present in dbSNP (version 109.3).