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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
  1. Broad disease category association study of detected and curated mosaic CNV events to implicate genomic loci for disease phenotypes. The “other” disease category represents subjects without a clear primary diagnosis fitting the broad disease categories defined