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Table 1 Breakdown of assays, panels, samples and variants contained within PMCC database (PathOS)

From: Findings from precision oncology in the clinic: rare, novel variants are a significant contributor to scaling molecular diagnostics

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)