Table 1 Breakdown of assays, panels, samples and variants contained within PMCC database (PathOS)
Analysis group | Assay | Average genes/panel (range) | Average genome coverage in Kb (range) | Patients | Samples | Average reported variants/patient (std. err.) | Average variants/patient (std. err.) |
|---|---|---|---|---|---|---|---|
Germline | Hyb-capture | 217 | 460.0 | 9283 | 10,728 | 0.3 (± 0.0) | 1.4 (± 0.0) |
|  | Amplicon | 6 (4–11) | 52.7 (42–81) | 17,950 | 24,818 | 0.0 (± 0.0) | 0.7 (± 0.0) |
|  | Sub-total | 35 (4–217) | 130.3 (42–460) | 27,233 | 35,839 | 0.1 (± 0.0) | 1.0 (± 0.0) |
Haematology | Hyb-capture | 337 (312–362) | 2069.6 (2052–2086) | 634 | 1420 | 1.1 (± 0.1) | 34.3 (± 1.2) |
|  | Amplicon | 29 (20–36) | 39.2 (26–67) | 9204 | 25,797 | 0.8 (± 0.0) | 2.0 (± 0.0) |
|  | Sub-total | 68 (20–362) | 293.0 (26–2087) | 9838 | 27,217 | 0.8 (± 0.0) | 4.0 (± 0.1) |
Somatic | Hyb-capture | 449 (90–701) | 2083.7 (421–2994) | 1820 | 3923 | 1.9 (± 0.1) | 30.1 (± 0.5) |
|  | Amplicon | 31 (13–119) | 53.0 (22–158) | 9145 | 29,268 | 0.6 (± 0.0) | 1.2 (± 0.0) |
|  | Sub-total | 161 (13–701) | 705.3 (22–2994) | 10,965 | 32,898 | 0.8 (± 0.0) | 6.0 (± 0.1) |
|  | Grand Total | 96 (4–701) | 404.2 (22–2994) | 48,036 | 95,954 | 0.4 (± 0.0) | 2.8 (± 0.0) |