Table 2.
Quality metrics of variant calls
| Sample ID | DNA source | DNA input amount |
# variants | Transition/ transversion ratio |
Heterozygous /homozygous call ratio |
% overlapping with dbSNP |
|---|---|---|---|---|---|---|
| PBCTNPLT001 | whole blood | 3 µg | 43014 | 2.59 | 1.59 | 98.46 |
| PBCTNPLT002 | whole blood | 3 µg | 44353 | 2.63 | 1.59 | 98.45 |
| PBCTNPLT003 | whole blood | 3 µg | 44868 | 2.61 | 1.66 | 98.13 |
| PBCTNPLT004 | whole blood | 3 µg | 52352 | 2.62 | 2.03 | 98.07 |
| PBCTNPLT005 | whole blood | 3 µg | 43781 | 2.62 | 1.64 | 98.46 |
| PBCTNPLT001 | whole blood | 1 µg | 42610 | 2.60 | 1.58 | 98.61 |
| PBCTNPLT002 | whole blood | 1 µg | 44202 | 2.64 | 1.60 | 98.51 |
| PBCTNPLT003 | whole blood | 1 µg | 44645 | 2.62 | 1.66 | 98.19 |
| PBCTNPLT004 | whole blood | 1 µg | 52206 | 2.61 | 2.04 | 98.10 |
| PBCTNPLT005 | whole blood | 1 µg | 43841 | 2.62 | 1.66 | 98.40 |
| PBCTNPLT001 | whole blood | 0.2 µg | 42592 | 2.59 | 1.57 | 98.51 |
| PBCTNPLT002 | whole blood | 0.2 µg | 44060 | 2.64 | 1.60 | 98.51 |
| PBCTNPLT003 | whole blood | 0.2 µg | 44707 | 2.61 | 1.65 | 98.17 |
| PBCTNPLT004 | whole blood | 0.2 µg | 52161 | 2.61 | 2.03 | 98.08 |
| PBCTNPLT005 | whole blood | 0.2 µg | 43626 | 2.62 | 1.64 | 98.43 |
| PBCTNPLT001 | saliva | 1 µg | 42711 | 2.59 | 1.58 | 98.56 |
| PBCTNPLT002 | saliva | 1 µg | 44317 | 2.64 | 1.60 | 98.50 |
| PBCTNPLT003 | saliva | 1 µg | 44998 | 2.61 | 1.71 | 98.16 |
| PBCTNPLT004 | saliva | 1 µg | 52287 | 2.62 | 2.04 | 98.14 |
| PBCTNPLT005 | saliva | 1 µg | 43700 | 2.62 | 1.64 | 98.50 |