Table 1-1.
HumanHap550 |
HumanHap610 |
|||
---|---|---|---|---|
GC* | GC | non-GC | GC+filtering** | |
Num of duplicate samples (avg. CNV/sample)*** | 182 (18.6) | 182 (79.4) | 182 (61.1) | 162 (54.1) |
Num of non-duplicate samples(avg. CNV/sample) | 1736 (26.6) | 1736 (68.5) | 1736 (92.9) | 1512 (54.9) |
Duplicate concordance rate | 0.55(±0.02) | 0.45(±0.02) | 0.43(±0.02) | 0.48(±0.02) |
Unrelated pair concordance rate**** | 0.05(±0.003) | 0.13(±0.004) | 0.11(±0.004) | 0.14(±0.004) |
Father-child transmission rate | 0.28(±0.006) | 0.28(±0.005) | 0.27(±0.005) | 0.31(±0.005) |
Mother-child transmission rate | 0.28(±0.006) | 0.27(±0.005) | 0.26(±0.005) | 0.31(±0.005) |
Child inheritance rate | 0.42(±0.009) | 0.40(±0.008) | 0.36(±0.008) | 0.45(±0.008) |
All mean overlap quantities were calculated as the average over pairs.
GC model adjustment procedure in PennCNV.
Samples were filtered by the criterion: LRR standard deviation (sd) > 0.3.
Number of duplicate samples (average number of CNVs per sample).
The unrelated pair concordance rate was calculated among father-mother pairs.