This pipeline computes the correlation between significant copy number variation (cnv focal) genes and selected clinical features.
Testing the association between copy number variation 28 focal events and 10 clinical features across 163 patients, 31 significant findings detected with Q value < 0.25.
-
amp_7q22.1 cnv correlated to 'NEOPLASM.DISEASESTAGE'.
-
amp_17q25.2 cnv correlated to 'PATHOLOGY.M.STAGE'.
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del_1p36.31 cnv correlated to 'Time to Death', 'NEOPLASM.DISEASESTAGE', and 'PATHOLOGY.T.STAGE'.
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del_3p22.1 cnv correlated to 'NEOPLASM.DISEASESTAGE' and 'PATHOLOGY.T.STAGE'.
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del_4q34.3 cnv correlated to 'NEOPLASM.DISEASESTAGE' and 'PATHOLOGY.T.STAGE'.
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del_5p14.2 cnv correlated to 'Time to Death' and 'PATHOLOGY.T.STAGE'.
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del_5q35.2 cnv correlated to 'PATHOLOGY.T.STAGE'.
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del_6q21 cnv correlated to 'PATHOLOGY.T.STAGE'.
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del_6q22.31 cnv correlated to 'PATHOLOGY.T.STAGE'.
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del_9p21.3 cnv correlated to 'Time to Death', 'NEOPLASM.DISEASESTAGE', and 'PATHOLOGY.T.STAGE'.
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del_11q22.3 cnv correlated to 'Time to Death', 'NEOPLASM.DISEASESTAGE', and 'PATHOLOGY.T.STAGE'.
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del_11q24.2 cnv correlated to 'Time to Death', 'NEOPLASM.DISEASESTAGE', and 'PATHOLOGY.T.STAGE'.
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del_15q15.2 cnv correlated to 'Time to Death', 'NEOPLASM.DISEASESTAGE', and 'PATHOLOGY.T.STAGE'.
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del_16q24.1 cnv correlated to 'Time to Death'.
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del_xp11.22 cnv correlated to 'Time to Death', 'NEOPLASM.DISEASESTAGE', and 'PATHOLOGY.T.STAGE'.
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del_xq28 cnv correlated to 'Time to Death'.
Clinical Features |
Time to Death |
AGE |
NEOPLASM DISEASESTAGE |
PATHOLOGY T STAGE |
PATHOLOGY N STAGE |
PATHOLOGY M STAGE |
GENDER |
KARNOFSKY PERFORMANCE SCORE |
NUMBERPACKYEARSSMOKED | YEAROFTOBACCOSMOKINGONSET | ||
nCNV (%) | nWild-Type | logrank test | t-test | Fisher's exact test | Fisher's exact test | Fisher's exact test | Fisher's exact test | Fisher's exact test | t-test | t-test | t-test | |
del 1p36 31 | 35 (21%) | 128 |
0.000879 (0.177) |
0.475 (1.00) |
1.99e-05 (0.00448) |
2.41e-05 (0.0054) |
0.013 (1.00) |
0.135 (1.00) |
0.0361 (1.00) |
0.301 (1.00) |
0.453 (1.00) |
|
del 9p21 3 | 24 (15%) | 139 |
5.18e-05 (0.0115) |
0.272 (1.00) |
3.19e-07 (7.34e-05) |
2.02e-06 (0.000461) |
0.00914 (1.00) |
0.00761 (1.00) |
0.00288 (0.576) |
0.314 (1.00) |
||
del 11q22 3 | 17 (10%) | 146 |
0.000127 (0.0279) |
0.114 (1.00) |
0.000152 (0.0329) |
0.000633 (0.13) |
0.0444 (1.00) |
0.0974 (1.00) |
0.401 (1.00) |
0.792 (1.00) |
||
del 11q24 2 | 17 (10%) | 146 |
3.61e-05 (0.00806) |
0.0593 (1.00) |
0.000152 (0.0329) |
0.000633 (0.13) |
0.0776 (1.00) |
0.0974 (1.00) |
0.589 (1.00) |
0.792 (1.00) |
||
del 15q15 2 | 21 (13%) | 142 |
2.86e-07 (6.61e-05) |
0.0511 (1.00) |
0.000171 (0.0368) |
0.000141 (0.0308) |
0.0057 (1.00) |
0.0523 (1.00) |
0.204 (1.00) |
0.348 (1.00) |
||
del xp11 22 | 18 (11%) | 145 |
0.000314 (0.0662) |
0.333 (1.00) |
0.000432 (0.089) |
0.000217 (0.0463) |
0.0836 (1.00) |
0.696 (1.00) |
0.00486 (0.942) |
0.467 (1.00) |
||
del 3p22 1 | 15 (9%) | 148 |
0.0198 (1.00) |
0.149 (1.00) |
6.41e-06 (0.00145) |
5.12e-05 (0.0114) |
0.361 (1.00) |
0.114 (1.00) |
0.386 (1.00) |
0.754 (1.00) |
0.453 (1.00) |
|
del 4q34 3 | 18 (11%) | 145 |
0.0288 (1.00) |
0.18 (1.00) |
0.00108 (0.217) |
0.000411 (0.0852) |
0.0698 (1.00) |
0.23 (1.00) |
0.00486 (0.942) |
0.754 (1.00) |
||
del 5p14 2 | 10 (6%) | 153 |
6.3e-05 (0.0139) |
0.185 (1.00) |
0.0109 (1.00) |
0.000382 (0.0799) |
0.0122 (1.00) |
0.359 (1.00) |
0.0673 (1.00) |
0.104 (1.00) |
||
amp 7q22 1 | 97 (60%) | 66 |
0.049 (1.00) |
0.518 (1.00) |
0.000276 (0.0584) |
0.00432 (0.851) |
0.54 (1.00) |
0.314 (1.00) |
0.166 (1.00) |
0.159 (1.00) |
0.354 (1.00) |
0.837 (1.00) |
amp 17q25 2 | 120 (74%) | 43 |
0.871 (1.00) |
0.239 (1.00) |
0.296 (1.00) |
0.395 (1.00) |
0.891 (1.00) |
0.000359 (0.0753) |
0.0319 (1.00) |
0.667 (1.00) |
||
del 5q35 2 | 10 (6%) | 153 |
0.00872 (1.00) |
0.0436 (1.00) |
0.00438 (0.859) |
0.000382 (0.0799) |
0.0903 (1.00) |
0.434 (1.00) |
0.0673 (1.00) |
|||
del 6q21 | 16 (10%) | 147 |
0.206 (1.00) |
0.902 (1.00) |
0.0157 (1.00) |
0.000811 (0.165) |
0.169 (1.00) |
0.445 (1.00) |
0.00717 (1.00) |
0.459 (1.00) |
0.315 (1.00) |
|
del 6q22 31 | 17 (10%) | 146 |
0.0437 (1.00) |
0.857 (1.00) |
0.00578 (1.00) |
0.000217 (0.0463) |
0.139 (1.00) |
0.304 (1.00) |
0.0105 (1.00) |
0.459 (1.00) |
0.315 (1.00) |
|
del 16q24 1 | 7 (4%) | 156 |
1.82e-06 (0.000417) |
0.57 (1.00) |
0.0363 (1.00) |
0.269 (1.00) |
0.192 (1.00) |
0.216 (1.00) |
0.199 (1.00) |
|||
del xq28 | 17 (10%) | 146 |
5.1e-06 (0.00116) |
0.113 (1.00) |
0.00351 (0.699) |
0.0134 (1.00) |
0.0836 (1.00) |
0.632 (1.00) |
0.0105 (1.00) |
0.469 (1.00) |
||
amp 2p23 2 | 32 (20%) | 131 |
0.262 (1.00) |
0.356 (1.00) |
0.46 (1.00) |
0.873 (1.00) |
0.408 (1.00) |
0.0307 (1.00) |
0.196 (1.00) |
0.537 (1.00) |
0.331 (1.00) |
0.477 (1.00) |
amp 2q32 1 | 39 (24%) | 124 |
0.461 (1.00) |
0.856 (1.00) |
0.0642 (1.00) |
0.172 (1.00) |
0.72 (1.00) |
0.0174 (1.00) |
0.424 (1.00) |
0.531 (1.00) |
||
amp 3q22 3 | 56 (34%) | 107 |
0.373 (1.00) |
0.478 (1.00) |
0.295 (1.00) |
0.0523 (1.00) |
1 (1.00) |
0.533 (1.00) |
0.591 (1.00) |
0.126 (1.00) |
0.354 (1.00) |
|
amp 19p13 2 | 19 (12%) | 144 |
0.543 (1.00) |
0.0568 (1.00) |
0.889 (1.00) |
0.0541 (1.00) |
0.521 (1.00) |
0.903 (1.00) |
0.595 (1.00) |
0.268 (1.00) |
||
del 2q37 3 | 8 (5%) | 155 |
0.681 (1.00) |
0.151 (1.00) |
0.018 (1.00) |
0.00691 (1.00) |
0.534 (1.00) |
0.0538 (1.00) |
||||
del 5q15 | 11 (7%) | 152 |
0.00642 (1.00) |
0.0301 (1.00) |
0.0357 (1.00) |
0.00535 (1.00) |
0.0903 (1.00) |
0.389 (1.00) |
0.0886 (1.00) |
|||
del 10p11 21 | 11 (7%) | 152 |
0.822 (1.00) |
0.823 (1.00) |
0.006 (1.00) |
0.0109 (1.00) |
0.0556 (1.00) |
0.52 (1.00) |
0.0886 (1.00) |
0.792 (1.00) |
||
del 14q11 2 | 34 (21%) | 129 |
0.00577 (1.00) |
0.68 (1.00) |
0.00494 (0.949) |
0.00745 (1.00) |
0.118 (1.00) |
0.17 (1.00) |
0.141 (1.00) |
0.448 (1.00) |
||
del 14q32 2 | 34 (21%) | 129 |
0.00427 (0.845) |
0.639 (1.00) |
0.00494 (0.949) |
0.00745 (1.00) |
0.0476 (1.00) |
0.183 (1.00) |
0.141 (1.00) |
0.448 (1.00) |
0.413 (1.00) |
0.00474 (0.925) |
del 19p13 3 | 16 (10%) | 147 |
0.0285 (1.00) |
0.946 (1.00) |
0.00802 (1.00) |
0.00614 (1.00) |
0.209 (1.00) |
0.412 (1.00) |
0.568 (1.00) |
0.268 (1.00) |
||
del 19q13 42 | 15 (9%) | 148 |
0.179 (1.00) |
0.792 (1.00) |
0.0167 (1.00) |
0.0135 (1.00) |
0.651 (1.00) |
0.512 (1.00) |
0.386 (1.00) |
0.754 (1.00) |
||
del 21q22 3 | 31 (19%) | 132 |
0.577 (1.00) |
0.661 (1.00) |
0.0139 (1.00) |
0.00747 (1.00) |
0.872 (1.00) |
0.143 (1.00) |
0.129 (1.00) |
0.711 (1.00) |
0.332 (1.00) |
P value = 0.000276 (Fisher's exact test), Q value = 0.058
nPatients | STAGE I | STAGE II | STAGE III | STAGE IV |
---|---|---|---|---|
ALL | 95 | 11 | 37 | 10 |
AMP PEAK 4(7Q22.1) MUTATED | 67 | 4 | 12 | 6 |
AMP PEAK 4(7Q22.1) WILD-TYPE | 28 | 7 | 25 | 4 |
P value = 0.000359 (Fisher's exact test), Q value = 0.075
nPatients | M0 | M1 | MX |
---|---|---|---|
ALL | 62 | 6 | 82 |
AMP PEAK 5(17Q25.2) MUTATED | 35 | 4 | 70 |
AMP PEAK 5(17Q25.2) WILD-TYPE | 27 | 2 | 12 |
P value = 0.000879 (logrank test), Q value = 0.18
nPatients | nDeath | Duration Range (Median), Month | |
---|---|---|---|
ALL | 150 | 17 | 0.0 - 194.8 (14.0) |
DEL PEAK 1(1P36.31) MUTATED | 35 | 7 | 0.1 - 123.6 (7.7) |
DEL PEAK 1(1P36.31) WILD-TYPE | 115 | 10 | 0.0 - 194.8 (16.6) |
P value = 1.99e-05 (Fisher's exact test), Q value = 0.0045
nPatients | STAGE I | STAGE II | STAGE III | STAGE IV |
---|---|---|---|---|
ALL | 95 | 11 | 37 | 10 |
DEL PEAK 1(1P36.31) MUTATED | 9 | 3 | 17 | 4 |
DEL PEAK 1(1P36.31) WILD-TYPE | 86 | 8 | 20 | 6 |
P value = 2.41e-05 (Fisher's exact test), Q value = 0.0054
nPatients | T1 | T2 | T3+T4 |
---|---|---|---|
ALL | 102 | 17 | 44 |
DEL PEAK 1(1P36.31) MUTATED | 11 | 4 | 20 |
DEL PEAK 1(1P36.31) WILD-TYPE | 91 | 13 | 24 |
P value = 6.41e-06 (Fisher's exact test), Q value = 0.0014
nPatients | STAGE I | STAGE II | STAGE III | STAGE IV |
---|---|---|---|---|
ALL | 95 | 11 | 37 | 10 |
DEL PEAK 3(3P22.1) MUTATED | 1 | 1 | 10 | 3 |
DEL PEAK 3(3P22.1) WILD-TYPE | 94 | 10 | 27 | 7 |
P value = 5.12e-05 (Fisher's exact test), Q value = 0.011
nPatients | T1 | T2 | T3+T4 |
---|---|---|---|
ALL | 102 | 17 | 44 |
DEL PEAK 3(3P22.1) MUTATED | 2 | 2 | 11 |
DEL PEAK 3(3P22.1) WILD-TYPE | 100 | 15 | 33 |
P value = 0.00108 (Fisher's exact test), Q value = 0.22
nPatients | STAGE I | STAGE II | STAGE III | STAGE IV |
---|---|---|---|---|
ALL | 95 | 11 | 37 | 10 |
DEL PEAK 4(4Q34.3) MUTATED | 4 | 2 | 10 | 2 |
DEL PEAK 4(4Q34.3) WILD-TYPE | 91 | 9 | 27 | 8 |
P value = 0.000411 (Fisher's exact test), Q value = 0.085
nPatients | T1 | T2 | T3+T4 |
---|---|---|---|
ALL | 102 | 17 | 44 |
DEL PEAK 4(4Q34.3) MUTATED | 4 | 3 | 11 |
DEL PEAK 4(4Q34.3) WILD-TYPE | 98 | 14 | 33 |
P value = 6.3e-05 (logrank test), Q value = 0.014
nPatients | nDeath | Duration Range (Median), Month | |
---|---|---|---|
ALL | 150 | 17 | 0.0 - 194.8 (14.0) |
DEL PEAK 5(5P14.2) MUTATED | 9 | 4 | 0.1 - 63.7 (6.6) |
DEL PEAK 5(5P14.2) WILD-TYPE | 141 | 13 | 0.0 - 194.8 (14.4) |
P value = 0.000382 (Fisher's exact test), Q value = 0.08
nPatients | T1 | T2 | T3+T4 |
---|---|---|---|
ALL | 102 | 17 | 44 |
DEL PEAK 5(5P14.2) MUTATED | 1 | 1 | 8 |
DEL PEAK 5(5P14.2) WILD-TYPE | 101 | 16 | 36 |
P value = 0.000382 (Fisher's exact test), Q value = 0.08
nPatients | T1 | T2 | T3+T4 |
---|---|---|---|
ALL | 102 | 17 | 44 |
DEL PEAK 7(5Q35.2) MUTATED | 1 | 1 | 8 |
DEL PEAK 7(5Q35.2) WILD-TYPE | 101 | 16 | 36 |
P value = 0.000811 (Fisher's exact test), Q value = 0.16
nPatients | T1 | T2 | T3+T4 |
---|---|---|---|
ALL | 102 | 17 | 44 |
DEL PEAK 8(6Q21) MUTATED | 5 | 0 | 11 |
DEL PEAK 8(6Q21) WILD-TYPE | 97 | 17 | 33 |
P value = 0.000217 (Fisher's exact test), Q value = 0.046
nPatients | T1 | T2 | T3+T4 |
---|---|---|---|
ALL | 102 | 17 | 44 |
DEL PEAK 9(6Q22.31) MUTATED | 5 | 0 | 12 |
DEL PEAK 9(6Q22.31) WILD-TYPE | 97 | 17 | 32 |
P value = 5.18e-05 (logrank test), Q value = 0.011
nPatients | nDeath | Duration Range (Median), Month | |
---|---|---|---|
ALL | 150 | 17 | 0.0 - 194.8 (14.0) |
DEL PEAK 10(9P21.3) MUTATED | 22 | 7 | 0.1 - 93.3 (10.5) |
DEL PEAK 10(9P21.3) WILD-TYPE | 128 | 10 | 0.0 - 194.8 (14.9) |
P value = 3.19e-07 (Fisher's exact test), Q value = 7.3e-05
nPatients | STAGE I | STAGE II | STAGE III | STAGE IV |
---|---|---|---|---|
ALL | 95 | 11 | 37 | 10 |
DEL PEAK 10(9P21.3) MUTATED | 4 | 0 | 12 | 6 |
DEL PEAK 10(9P21.3) WILD-TYPE | 91 | 11 | 25 | 4 |
P value = 2.02e-06 (Fisher's exact test), Q value = 0.00046
nPatients | T1 | T2 | T3+T4 |
---|---|---|---|
ALL | 102 | 17 | 44 |
DEL PEAK 10(9P21.3) MUTATED | 5 | 2 | 17 |
DEL PEAK 10(9P21.3) WILD-TYPE | 97 | 15 | 27 |
P value = 0.000127 (logrank test), Q value = 0.028
nPatients | nDeath | Duration Range (Median), Month | |
---|---|---|---|
ALL | 150 | 17 | 0.0 - 194.8 (14.0) |
DEL PEAK 12(11Q22.3) MUTATED | 16 | 5 | 0.1 - 123.6 (8.3) |
DEL PEAK 12(11Q22.3) WILD-TYPE | 134 | 12 | 0.0 - 194.8 (14.6) |
P value = 0.000152 (Fisher's exact test), Q value = 0.033
nPatients | STAGE I | STAGE II | STAGE III | STAGE IV |
---|---|---|---|---|
ALL | 95 | 11 | 37 | 10 |
DEL PEAK 12(11Q22.3) MUTATED | 3 | 2 | 8 | 4 |
DEL PEAK 12(11Q22.3) WILD-TYPE | 92 | 9 | 29 | 6 |
P value = 0.000633 (Fisher's exact test), Q value = 0.13
nPatients | T1 | T2 | T3+T4 |
---|---|---|---|
ALL | 102 | 17 | 44 |
DEL PEAK 12(11Q22.3) MUTATED | 4 | 2 | 11 |
DEL PEAK 12(11Q22.3) WILD-TYPE | 98 | 15 | 33 |
P value = 3.61e-05 (logrank test), Q value = 0.0081
nPatients | nDeath | Duration Range (Median), Month | |
---|---|---|---|
ALL | 150 | 17 | 0.0 - 194.8 (14.0) |
DEL PEAK 13(11Q24.2) MUTATED | 16 | 6 | 0.1 - 123.6 (9.9) |
DEL PEAK 13(11Q24.2) WILD-TYPE | 134 | 11 | 0.0 - 194.8 (14.5) |
P value = 0.000152 (Fisher's exact test), Q value = 0.033
nPatients | STAGE I | STAGE II | STAGE III | STAGE IV |
---|---|---|---|---|
ALL | 95 | 11 | 37 | 10 |
DEL PEAK 13(11Q24.2) MUTATED | 3 | 2 | 8 | 4 |
DEL PEAK 13(11Q24.2) WILD-TYPE | 92 | 9 | 29 | 6 |
P value = 0.000633 (Fisher's exact test), Q value = 0.13
nPatients | T1 | T2 | T3+T4 |
---|---|---|---|
ALL | 102 | 17 | 44 |
DEL PEAK 13(11Q24.2) MUTATED | 4 | 2 | 11 |
DEL PEAK 13(11Q24.2) WILD-TYPE | 98 | 15 | 33 |
P value = 2.86e-07 (logrank test), Q value = 6.6e-05
nPatients | nDeath | Duration Range (Median), Month | |
---|---|---|---|
ALL | 150 | 17 | 0.0 - 194.8 (14.0) |
DEL PEAK 16(15Q15.2) MUTATED | 20 | 7 | 0.1 - 194.8 (8.2) |
DEL PEAK 16(15Q15.2) WILD-TYPE | 130 | 10 | 0.0 - 129.9 (14.6) |
P value = 0.000171 (Fisher's exact test), Q value = 0.037
nPatients | STAGE I | STAGE II | STAGE III | STAGE IV |
---|---|---|---|---|
ALL | 95 | 11 | 37 | 10 |
DEL PEAK 16(15Q15.2) MUTATED | 5 | 1 | 9 | 5 |
DEL PEAK 16(15Q15.2) WILD-TYPE | 90 | 10 | 28 | 5 |
P value = 0.000141 (Fisher's exact test), Q value = 0.031
nPatients | T1 | T2 | T3+T4 |
---|---|---|---|
ALL | 102 | 17 | 44 |
DEL PEAK 16(15Q15.2) MUTATED | 6 | 1 | 14 |
DEL PEAK 16(15Q15.2) WILD-TYPE | 96 | 16 | 30 |
P value = 1.82e-06 (logrank test), Q value = 0.00042
nPatients | nDeath | Duration Range (Median), Month | |
---|---|---|---|
ALL | 150 | 17 | 0.0 - 194.8 (14.0) |
DEL PEAK 17(16Q24.1) MUTATED | 6 | 3 | 0.7 - 21.6 (9.5) |
DEL PEAK 17(16Q24.1) WILD-TYPE | 144 | 14 | 0.0 - 194.8 (14.5) |
P value = 0.000314 (logrank test), Q value = 0.066
nPatients | nDeath | Duration Range (Median), Month | |
---|---|---|---|
ALL | 150 | 17 | 0.0 - 194.8 (14.0) |
DEL PEAK 21(XP11.22) MUTATED | 17 | 5 | 0.1 - 79.9 (10.1) |
DEL PEAK 21(XP11.22) WILD-TYPE | 133 | 12 | 0.0 - 194.8 (14.4) |
P value = 0.000432 (Fisher's exact test), Q value = 0.089
nPatients | STAGE I | STAGE II | STAGE III | STAGE IV |
---|---|---|---|---|
ALL | 95 | 11 | 37 | 10 |
DEL PEAK 21(XP11.22) MUTATED | 3 | 1 | 10 | 2 |
DEL PEAK 21(XP11.22) WILD-TYPE | 92 | 10 | 27 | 8 |
P value = 0.000217 (Fisher's exact test), Q value = 0.046
nPatients | T1 | T2 | T3+T4 |
---|---|---|---|
ALL | 102 | 17 | 44 |
DEL PEAK 21(XP11.22) MUTATED | 4 | 2 | 12 |
DEL PEAK 21(XP11.22) WILD-TYPE | 98 | 15 | 32 |
P value = 5.1e-06 (logrank test), Q value = 0.0012
nPatients | nDeath | Duration Range (Median), Month | |
---|---|---|---|
ALL | 150 | 17 | 0.0 - 194.8 (14.0) |
DEL PEAK 22(XQ28) MUTATED | 16 | 5 | 0.1 - 25.1 (9.9) |
DEL PEAK 22(XQ28) WILD-TYPE | 134 | 12 | 0.0 - 194.8 (14.5) |
-
Copy number data file = transformed.cor.cli.txt
-
Clinical data file = KIRP-TP.merged_data.txt
-
Number of patients = 163
-
Number of significantly focal cnvs = 28
-
Number of selected clinical features = 10
-
Exclude genes that fewer than K tumors have mutations, K = 3
For survival clinical features, the Kaplan-Meier survival curves of tumors with and without gene mutations were plotted and the statistical significance P values were estimated by logrank test (Bland and Altman 2004) using the 'survdiff' function in R
For continuous numerical clinical features, two-tailed Student's t test with unequal variance (Lehmann and Romano 2005) was applied to compare the clinical values between tumors with and without gene mutations using 't.test' function in R
For binary or multi-class clinical features (nominal or ordinal), two-tailed Fisher's exact tests (Fisher 1922) were used to estimate the P values using the 'fisher.test' function in R
For multiple hypothesis correction, Q value is the False Discovery Rate (FDR) analogue of the P value (Benjamini and Hochberg 1995), defined as the minimum FDR at which the test may be called significant. We used the 'Benjamini and Hochberg' method of 'p.adjust' function in R to convert P values into Q values.
In addition to the links below, the full results of the analysis summarized in this report can also be downloaded programmatically using firehose_get, or interactively from either the Broad GDAC website or TCGA Data Coordination Center Portal.