Table 2 Top 5 Significant Results p < 5E-4 Per Disease Category
From: MONTAGE: a new tool for high-throughput detection of mosaic copy number variation
Disease | chr | Start (Mb/hg19) | Stop (Mb/hg19) | p | OR | cases | controls | Telo/Centro | cases male | controls male |
|---|---|---|---|---|---|---|---|---|---|---|
cancer | 9 | 44 | 45 | 1.47E-39 | 0.065 | 10 | 251 | No | 4 | 117 |
cancer | 9 | 45 | 46 | 1.81E-37 | 0.065 | 10 | 241 | No | 4 | 110 |
cancer | 9 | 46 | 47 | 1.38E-31 | 0.065 | 10 | 212 | No | 4 | 97 |
cancer | 9 | 43 | 44 | 1.24E-27 | 0.066 | 7 | 177 | No | 4 | 83 |
cancer | 1 | 8 | 10 | 5.40E-24 | 8.701 | 89 | 19 | No | 65 | 15 |
autoimmune | 16 | 1 | 3 | 5.29E-14 | 6.130 | 37 | 46 | telomere | 22 | 21 |
healthy | 9 | 44 | 45 | 1.62E-13 | 3.038 | 73 | 188 | No | 28 | 93 |
neurodegenerative | 20 | 41 | 42 | 1.11E-12 | 12.040 | 18 | 42 | No | 10 | 31 |
healthy | 9 | 40 | 42 | 1.61E-12 | 8.797 | 26 | 22 | No | 14 | 15 |
neurodegenerative | 20 | 42 | 45 | 1.45E-11 | 11.030 | 17 | 43 | No | 10 | 33 |
healthy | 9 | 45 | 47 | 2.10E-11 | 2.986 | 62 | 160 | No | 24 | 78 |
autoimmune | 19 | 1 | 3 | 3.77E-11 | 3.822 | 44 | 88 | telomere | 25 | 52 |
healthy | 9 | 43 | 44 | 7.52E-11 | 8.797 | 54 | 130 | No | 20 | 67 |
healthy | 15 | 21 | 23 | 8.05E-11 | 7.137 | 25 | 26 | No | 8 | 9 |
neurodegenerative | 20 | 48 | 51 | 2.78E-10 | 12.400 | 14 | 31 | No | 8 | 21 |
other | 9 | 44 | 46 | 7.82E-10 | 2.316 | 93 | 158 | No | 46 | 68 |
autoimmune | 16 | 0 | 1 | 8.68E-10 | 5.724 | 26 | 34 | telomere | 18 | 16 |
congenital heart | 22 | 22 | 23 | 1.11E-09 | 45.810 | 8 | 6 | No | 6 | 4 |
neurodegenerative | 20 | 45 | 47 | 1.79E-09 | 10.370 | 14 | 37 | No | 9 | 29 |
neurodegenerative | 20 | 31 | 32 | 4.90E-09 | 12.520 | 12 | 26 | No | 8 | 21 |
autoimmune | 17 | 79 | 81 | 9.94E-09 | 7.415 | 19 | 19 | telomere | 9 | 4 |
congenital heart | 22 | 20 | 22 | 2.36E-08 | 39.780 | 7 | 6 | No | 5 | 3 |
other | 9 | 43 | 44 | 2.67E-07 | 2.270 | 68 | 116 | No | 36 | 51 |
other | 9 | 46 | 47 | 3.99E-07 | 2.316 | 78 | 144 | No | 37 | 64 |
autoimmune | 11 | 109 | 110 | 4.26E-07 | 0.000 | 0 | 113 | No | 72 | 1 |
congenital heart | 22 | 19 | 20 | 8.43E-07 | 28.990 | 6 | 7 | No | 4 | 3 |
other | 7 | 48 | 50 | 8.21E-06 | 7.534 | 14 | 7 | No | 10 | 5 |
adhd | 14 | 107 | 107 | 1.48E-05 | 45.240 | 4 | 4 | No | 2 | 2 |
other | 7 | 38 | 39 | 1.83E-05 | 6.590 | 14 | 8 | No | 11 | 5 |
adhd | 14 | 106 | 107 | 2.57E-05 | 16.430 | 4 | 11 | telomere | 2 | 6 |
autism | 6 | 20 | 21 | 3.14E-05 | 30.390 | 3 | 7 | No | 2 | 3 |
autism | 6 | 24 | 26 | 4.27E-05 | 26.580 | 3 | 8 | No | 2 | 4 |
cancer | 7 | 150 | 159 | 4.59E-05 | 4.586 | 18 | 7 | telomere | 10 | 5 |