TABLE 2.
Rare CNV burden among different CTRD cohorts
| Rarea |
|||||||
|---|---|---|---|---|---|---|---|
| CNV type | Count | Count | CNV burdenb | Case/control CNV burden odds ratio | Significance (sample count-based) | Significance (CNV count-based) | |
| ND-CTRD cohort 1 | Duplications | 341 | 170 | 0.42 | 1.58 | 2.35E-06 | 4.98E-09 |
| Deletions | 1,392 | 366 | 0.91 | 1.50 | 1.12E-05 | 1.59E-16 | |
| All CNVs | 1,733 | 536 | 1.34 | 1.52 | 1.18E-07 | 2.05E-24 | |
| Large CNVs | |||||||
| Duplications | 61 | 45 | 0.11 | 1.56 | 1.80E-02 | 1.15E-04 | |
| Deletions | 33 | 25 | 0.06 | 2.14 | 2.38E-03 | 7.16E-03 | |
| All CNVs | 94 | 70 | 0.17 | 1.73 | 5.23E-04 | 1.45E-06 | |
| ND-CTRD cohort 2 | Duplications | 391 | 170 | 0.74 | 1.64 | 9.80E-09 | 4.10E-33 |
| Deletions | 1,714 | 415 | 1.81 | 1.96 | 1.12E-07 | 1.43E-27 | |
| All CNVs | 2,105 | 585 | 2.55 | 1.85 | 4.36E-09 | 1.65E-49 | |
| Large CNVs | |||||||
| Duplications | 65 | 35 | 0.15 | 1.64 | 9.50E-03 | 6.55E-05 | |
| Deletions | 33 | 22 | 0.10 | 1.84 | 8.45E-02 | 8.69E-03 | |
| All CNVs | 98 | 57 | 0.25 | 1.71 | 2.29E-03 | 9.91E-07 | |
| DS-CTRD | Duplications | 784 | 311 | 0.52 | 1.11 | 4.60E-01 | 5.76E-01 |
| Deletions | 7,767 | 2082 | 3.46 | 1.00 | 2.73E-01 | 3.78E-01 | |
| All CNVs | 8,551 | 2,393 | 3.97 | 1.01 | 4.09E-01 | 5.43E-01 | |
| Large CNVs | |||||||
| Duplications | 219 | 128 | 0.21 | 1.13 | 3.82E-01 | 7.25E-01 | |
| Deletions | 258 | 74 | 0.12 | 0.92 | 3.26E-01 | 3.57E-01 | |
| All CNVs | 477 | 202 | 0.34 | 1.04 | 9.26E-01 | 7.52E-01 | |
a
Fisher Exact Test, two-side, bold type indicates significance.
b
CNV Burden = Number of CNV/Sample.