Sensitive and specific detection of mosaic chromosomal abnormalities using the Parent-of-Origin-based Detection (POD) method

Table 3 Sensitivity benchmarking statistics

	triPOD	paired BAFseg	PSCN	genoCNA	MAD	PennCNV joint
Mean detection threshold	0.96	0.81	0.82	0.71	0.78	NA
Proportion detected >= 95%	0.91	0.78	0.79	0.69	0.37	0.31
Mean Region Size (SNPs)	6874	4481	376	579	705	246

Detection statistics are compared between triPOD and other benchmarked programs. The mean detection threshold is the mean of the percent normal cells (> 50%) at which the sensitivity of detection first drops to zero. The proportion detected >= 95% refers to the proportion of the total number of simulated abnormalities detected with >= 95% sensitivity. The mean region size serves as an indication of a program’s ability to call an entire abnormality as a single abnormal region.

ISSN: 1471-2164