True-positive rate | Default ExomeDepth workflow | Modified ExomeDepth workflow | ||
---|---|---|---|---|
Deletions | Duplications | Deletions | Duplications | |
Overall | 96% (172/180) | 95% (283/299) | 98% (163/166) | 96% (280/293) |
Heterozygous deletions | 95% (164/172) | Â | 98% (157/160) | Â |
Homozygous deletions | 100% (6/6) | Â | 100% (4/4) | Â |
Hemizygous deletions | 100% (2/2) | Â | 100% (2/2) | Â |
Duplications | Â | 95% (278/294) | Â | 95% (275/288) |
Triplications | Â | 100% (5/5) | Â | 100% (5/5) |
Autosomal | 96% (165/171) | 95% (256/270) | 98% (156/159) | 95% (254/266) |
Chromosome X | 78% (7/9) | 93% (27/29) | 100% (7/7) | 96% (26/27) |
Clinically reported CNVs | 100% (24/24) | 100% (17/17) | 100% (22/22) | 100% (17/17) |
CNVs overlapping < 4 exons | 86% (31/36) | 87% (59/68) | 94% (29/31) | 87% (58/67) |
CNVs overlapping ≥ 4 exons | 98% (141/144) | 97% (224/231) | 99% (134/135) | 98% (222/226) |