Fig 1.
Benchmarking off-target CNV calling from targeted panel data.
The data points on the plot are generated by a parameter sweep for each tool and show the precision and recall that can be achieved with each tool. The f statistic is the harmonic mean of precision and recall (see Materials and Methods for details).
Fig 2.
Benchmarking on-target CNV calling from targeted panel data.
The data points on the plot are generated by a parameter sweep for each tool and show the precision and recall that can be achieved with each tool. The f statistic is the harmonic mean of precision and recall (see Materials and Methods for details).
Fig 3.
Benchmarking off-target CNV calling from exome data.
The data points on the plot are generated by a parameter sweep for each tool and show the precision and recall that can be achieved with each tool. The f statistic is the harmonic mean of precision and recall (see Materials and Methods for details).
Table 1.
Clinically-relevant CNVs detected.