Table 3:
Count of homozygous and heterzygous genotype calls made by PanGenie. In our benchmark, we excluded the heterozygous calls because the sequencing datasets were derived from homozygous cell lines.
| Coverage | APD |
DBB |
MANN |
QBL |
SSTO |
|||||
|---|---|---|---|---|---|---|---|---|---|---|
| Hom | Het | Hom | Het | Hom | Het | Hom | Het | Hom | Het | |
| 0.1× | 52,816 | 6,245 | 51,435 | 7,626 | 52,452 | 6,609 | 53,707 | 5,354 | 53,893 | 5,168 |
|
| ||||||||||
| 0.5× | 56,249 | 2,812 | 55,845 | 3,216 | 56,258 | 2,803 | 56,447 | 2,614 | 56,064 | 2,997 |
|
| ||||||||||
| 1× | 57,448 | 1,613 | 57,010 | 2,051 | 57,064 | 1,997 | 57,224 | 1,837 | 57,099 | 1,962 |
|
| ||||||||||
| 2× | 58,201 | 860 | 57,948 | 1,113 | 58,334 | 727 | 58,101 | 960 | 58,397 | 664 |
|
| ||||||||||
| 5× | 58,552 | 509 | 58,382 | 679 | 58,601 | 460 | 58,340 | 721 | 58,228 | 833 |
|
| ||||||||||
| 10× | 58,533 | 528 | 58,478 | 583 | 58,188 | 873 | 58,343 | 718 | 58,337 | 724 |
|
| ||||||||||
| Complete data | 58,647 | 414 | 58,457 | 604 | 58,592 | 469 | 58,457 | 604 | 58,521 | 540 |