Table 2.
Effect of Tumor Sample Coverage on Gene-Level Log2(FC) and MAD
Sample | Gene and alteration type | Tumor purity, % | Coverage | Sample MAD | TCH solid SCNA log2(FC) | TCH solid SCNA call |
---|---|---|---|---|---|---|
T01 | CCND1 amplification | 70 | 834× | 0.22 | 3.78 | Yes |
700× | 0.22 | 3.78 | ||||
600× | 0.22 | 3.78 | ||||
500× | 0.23 | 3.79 | ||||
400× | 0.23 | 3.78 | ||||
300× | 0.24 | 3.77 | ||||
200× | 0.26 | 3.77 | ||||
100× | 0.3 | 3.77 | ||||
50× | 0.37∗ | 3.77 | ||||
25× | 0.48∗ | 3.77 | ||||
10× | 0.69∗ | 3.73 | ||||
5× | 0.99∗ | 3.72 | ||||
1× | 6.14∗ | 4.67 | ||||
T07 | SMARCB1 homozygous deletion | 90 | 337× | 0.23 | −3.97 | Yes |
200× | 0.26 | −3.99 | ||||
100× | 0.31 | −4.07 | ||||
50× | 0.4∗ | −3.94 | ||||
25× | 0.52∗ | −3.56 | ||||
10× | 0.78∗ | −3.05 | ||||
5× | 1.1∗ | −1.08 | ||||
1× | 8.43∗ | 0.03∗ | No | |||
T06 | PTEN heterozygous deletion | 80 | 104× | 0.26 | −0.9 | Yes |
50× | 0.32 | −0.9 | ||||
25× | 0.42∗ | −0.88 | ||||
10× | 0.61∗ | −0.93 | ||||
5× | 0.86∗ | −1.07 | ||||
1× | 4.25∗ | 1.02∗ | No |
MAD, median absolute deviation; TCH, Texas Children's Hospital.
The measure fails to be within the expected limits. Tumor purity estimated by pathology review.