This pipeline computes the correlation between significant arm-level copy number variations (cnvs) and molecular subtypes.
Testing the association between copy number variation 30 arm-level events and 6 molecular subtypes across 191 patients, 26 significant findings detected with P value < 0.05 and Q value < 0.25.
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8p gain cnv correlated to 'CN_CNMF' and 'METHLYATION_CNMF'.
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8q gain cnv correlated to 'CN_CNMF' and 'METHLYATION_CNMF'.
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11p gain cnv correlated to 'CN_CNMF'.
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11q gain cnv correlated to 'CN_CNMF'.
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19p gain cnv correlated to 'CN_CNMF'.
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19q gain cnv correlated to 'CN_CNMF'.
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21q gain cnv correlated to 'CN_CNMF'.
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22q gain cnv correlated to 'CN_CNMF'.
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5q loss cnv correlated to 'CN_CNMF'.
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7p loss cnv correlated to 'CN_CNMF', 'METHLYATION_CNMF', 'MRNASEQ_CNMF', 'MRNASEQ_CHIERARCHICAL', and 'MIRSEQ_CHIERARCHICAL'.
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7q loss cnv correlated to 'CN_CNMF', 'METHLYATION_CNMF', and 'MIRSEQ_CHIERARCHICAL'.
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15q loss cnv correlated to 'CN_CNMF'.
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16q loss cnv correlated to 'CN_CNMF'.
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17p loss cnv correlated to 'CN_CNMF'.
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17q loss cnv correlated to 'CN_CNMF'.
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18p loss cnv correlated to 'CN_CNMF'.
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18q loss cnv correlated to 'CN_CNMF'.
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xq loss cnv correlated to 'CN_CNMF'.
Clinical Features |
CN CNMF |
METHLYATION CNMF |
MRNASEQ CNMF |
MRNASEQ CHIERARCHICAL |
MIRSEQ CNMF |
MIRSEQ CHIERARCHICAL |
||
nCNV (%) | nWild-Type | Fisher's exact test | Chi-square test | Fisher's exact test | Fisher's exact test | Fisher's exact test | Fisher's exact test | |
7p loss | 17 (9%) | 174 |
4.46e-05 (0.00758) |
0.000252 (0.0416) |
0.000852 (0.135) |
0.00141 (0.219) |
0.00382 (0.561) |
0.000194 (0.0322) |
7q loss | 20 (10%) | 171 |
3.95e-06 (0.000691) |
1.14e-05 (0.00196) |
0.00641 (0.885) |
0.0125 (1.00) |
0.00168 (0.254) |
7.26e-05 (0.0123) |
8p gain | 22 (12%) | 169 |
0.000968 (0.152) |
0.000303 (0.0498) |
0.0274 (1.00) |
0.00695 (0.953) |
0.0109 (1.00) |
0.0972 (1.00) |
8q gain | 23 (12%) | 168 |
0.00162 (0.247) |
0.000904 (0.143) |
0.0138 (1.00) |
0.00397 (0.579) |
0.00745 (1.00) |
0.114 (1.00) |
11p gain | 4 (2%) | 187 |
0.000687 (0.111) |
0.0808 (1.00) |
0.467 (1.00) |
1 (1.00) |
0.523 (1.00) |
0.0704 (1.00) |
11q gain | 7 (4%) | 184 |
8.12e-06 (0.00141) |
0.00516 (0.733) |
0.0668 (1.00) |
0.425 (1.00) |
0.291 (1.00) |
0.271 (1.00) |
19p gain | 5 (3%) | 186 |
0.000749 (0.121) |
0.633 (1.00) |
1 (1.00) |
1 (1.00) |
0.578 (1.00) |
1 (1.00) |
19q gain | 5 (3%) | 186 |
0.000749 (0.121) |
0.633 (1.00) |
1 (1.00) |
1 (1.00) |
0.578 (1.00) |
1 (1.00) |
21q gain | 8 (4%) | 183 |
3.41e-07 (6e-05) |
0.203 (1.00) |
0.124 (1.00) |
1 (1.00) |
0.0814 (1.00) |
0.198 (1.00) |
22q gain | 9 (5%) | 182 |
0.00109 (0.17) |
0.00832 (1.00) |
0.136 (1.00) |
0.275 (1.00) |
0.0556 (1.00) |
0.147 (1.00) |
5q loss | 6 (3%) | 185 |
3.23e-05 (0.00552) |
0.0134 (1.00) |
0.224 (1.00) |
0.664 (1.00) |
0.0318 (1.00) |
0.0205 (1.00) |
15q loss | 4 (2%) | 187 |
0.000504 (0.0821) |
0.654 (1.00) |
0.066 (1.00) |
0.301 (1.00) |
0.0228 (1.00) |
0.0116 (1.00) |
16q loss | 4 (2%) | 187 |
0.00151 (0.232) |
0.0808 (1.00) |
0.786 (1.00) |
1 (1.00) |
0.0147 (1.00) |
0.0116 (1.00) |
17p loss | 13 (7%) | 178 |
1.97e-12 (3.48e-10) |
0.00581 (0.813) |
0.151 (1.00) |
0.0624 (1.00) |
0.16 (1.00) |
0.00532 (0.751) |
17q loss | 7 (4%) | 184 |
5.11e-06 (0.00089) |
0.201 (1.00) |
0.0668 (1.00) |
0.425 (1.00) |
0.0385 (1.00) |
0.00633 (0.88) |
18p loss | 5 (3%) | 186 |
0.000142 (0.0237) |
0.0335 (1.00) |
1 (1.00) |
1 (1.00) |
0.248 (1.00) |
0.329 (1.00) |
18q loss | 4 (2%) | 187 |
0.00151 (0.232) |
0.0808 (1.00) |
0.467 (1.00) |
1 (1.00) |
0.101 (1.00) |
0.0704 (1.00) |
xq loss | 5 (3%) | 186 |
0.000101 (0.017) |
0.15 (1.00) |
0.224 (1.00) |
0.664 (1.00) |
0.00335 (0.496) |
0.00258 (0.386) |
1p gain | 3 (2%) | 188 |
0.00511 (0.731) |
0.185 (1.00) |
0.186 (1.00) |
0.552 (1.00) |
0.0923 (1.00) |
0.0481 (1.00) |
4p gain | 4 (2%) | 187 |
0.0259 (1.00) |
0.0502 (1.00) |
0.55 (1.00) |
0.343 (1.00) |
0.831 (1.00) |
|
4q gain | 4 (2%) | 187 |
0.0259 (1.00) |
0.0502 (1.00) |
0.55 (1.00) |
0.343 (1.00) |
0.831 (1.00) |
|
10q gain | 3 (2%) | 188 |
0.012 (1.00) |
0.185 (1.00) |
0.186 (1.00) |
0.552 (1.00) |
0.552 (1.00) |
0.222 (1.00) |
13q gain | 6 (3%) | 185 |
0.0333 (1.00) |
0.0134 (1.00) |
0.124 (1.00) |
0.0978 (1.00) |
0.8 (1.00) |
0.25 (1.00) |
17q gain | 3 (2%) | 188 |
0.00767 (1.00) |
0.38 (1.00) |
1 (1.00) |
0.552 (1.00) |
0.482 (1.00) |
0.222 (1.00) |
xq gain | 3 (2%) | 188 |
0.00296 (0.442) |
0.658 (1.00) |
0.55 (1.00) |
0.891 (1.00) |
0.787 (1.00) |
|
3p loss | 3 (2%) | 188 |
0.00767 (1.00) |
0.185 (1.00) |
0.786 (1.00) |
1 (1.00) |
0.0618 (1.00) |
0.0481 (1.00) |
3q loss | 3 (2%) | 188 |
0.00767 (1.00) |
0.185 (1.00) |
0.786 (1.00) |
1 (1.00) |
0.0618 (1.00) |
0.0481 (1.00) |
12p loss | 4 (2%) | 187 |
0.00809 (1.00) |
0.0759 (1.00) |
0.374 (1.00) |
0.301 (1.00) |
0.483 (1.00) |
0.0704 (1.00) |
19p loss | 4 (2%) | 187 |
0.00421 (0.611) |
0.411 (1.00) |
0.467 (1.00) |
1 (1.00) |
0.311 (1.00) |
0.144 (1.00) |
19q loss | 4 (2%) | 187 |
0.00421 (0.611) |
0.411 (1.00) |
0.467 (1.00) |
1 (1.00) |
0.311 (1.00) |
0.144 (1.00) |
P value = 0.000968 (Fisher's exact test), Q value = 0.15
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 |
---|---|---|---|---|
ALL | 147 | 14 | 27 | 3 |
8P GAIN MUTATED | 11 | 1 | 10 | 0 |
8P GAIN WILD-TYPE | 136 | 13 | 17 | 3 |
P value = 0.000303 (Chi-square test), Q value = 0.05
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 | CLUS_5 |
---|---|---|---|---|---|
ALL | 46 | 44 | 61 | 14 | 20 |
8P GAIN MUTATED | 2 | 1 | 16 | 0 | 2 |
8P GAIN WILD-TYPE | 44 | 43 | 45 | 14 | 18 |
P value = 0.00162 (Fisher's exact test), Q value = 0.25
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 |
---|---|---|---|---|
ALL | 147 | 14 | 27 | 3 |
8Q GAIN MUTATED | 12 | 1 | 10 | 0 |
8Q GAIN WILD-TYPE | 135 | 13 | 17 | 3 |
P value = 0.000904 (Chi-square test), Q value = 0.14
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 | CLUS_5 |
---|---|---|---|---|---|
ALL | 46 | 44 | 61 | 14 | 20 |
8Q GAIN MUTATED | 2 | 2 | 16 | 0 | 2 |
8Q GAIN WILD-TYPE | 44 | 42 | 45 | 14 | 18 |
P value = 0.000687 (Fisher's exact test), Q value = 0.11
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 |
---|---|---|---|---|
ALL | 147 | 14 | 27 | 3 |
11P GAIN MUTATED | 0 | 3 | 1 | 0 |
11P GAIN WILD-TYPE | 147 | 11 | 26 | 3 |
P value = 8.12e-06 (Fisher's exact test), Q value = 0.0014
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 |
---|---|---|---|---|
ALL | 147 | 14 | 27 | 3 |
11Q GAIN MUTATED | 0 | 4 | 3 | 0 |
11Q GAIN WILD-TYPE | 147 | 10 | 24 | 3 |
P value = 0.000749 (Fisher's exact test), Q value = 0.12
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 |
---|---|---|---|---|
ALL | 147 | 14 | 27 | 3 |
19P GAIN MUTATED | 0 | 1 | 4 | 0 |
19P GAIN WILD-TYPE | 147 | 13 | 23 | 3 |
P value = 0.000749 (Fisher's exact test), Q value = 0.12
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 |
---|---|---|---|---|
ALL | 147 | 14 | 27 | 3 |
19Q GAIN MUTATED | 0 | 1 | 4 | 0 |
19Q GAIN WILD-TYPE | 147 | 13 | 23 | 3 |
P value = 3.41e-07 (Fisher's exact test), Q value = 6e-05
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 |
---|---|---|---|---|
ALL | 147 | 14 | 27 | 3 |
21Q GAIN MUTATED | 0 | 0 | 8 | 0 |
21Q GAIN WILD-TYPE | 147 | 14 | 19 | 3 |
P value = 0.00109 (Fisher's exact test), Q value = 0.17
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 |
---|---|---|---|---|
ALL | 147 | 14 | 27 | 3 |
22Q GAIN MUTATED | 2 | 2 | 5 | 0 |
22Q GAIN WILD-TYPE | 145 | 12 | 22 | 3 |
P value = 3.23e-05 (Fisher's exact test), Q value = 0.0055
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 |
---|---|---|---|---|
ALL | 147 | 14 | 27 | 3 |
5Q LOSS MUTATED | 0 | 0 | 6 | 0 |
5Q LOSS WILD-TYPE | 147 | 14 | 21 | 3 |
P value = 4.46e-05 (Fisher's exact test), Q value = 0.0076
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 |
---|---|---|---|---|
ALL | 147 | 14 | 27 | 3 |
7P LOSS MUTATED | 7 | 0 | 8 | 2 |
7P LOSS WILD-TYPE | 140 | 14 | 19 | 1 |
P value = 0.000252 (Chi-square test), Q value = 0.042
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 | CLUS_5 |
---|---|---|---|---|---|
ALL | 46 | 44 | 61 | 14 | 20 |
7P LOSS MUTATED | 1 | 0 | 14 | 1 | 1 |
7P LOSS WILD-TYPE | 45 | 44 | 47 | 13 | 19 |
P value = 0.000852 (Fisher's exact test), Q value = 0.14
nPatients | CLUS_1 | CLUS_2 | CLUS_3 |
---|---|---|---|
ALL | 70 | 52 | 44 |
7P LOSS MUTATED | 13 | 0 | 3 |
7P LOSS WILD-TYPE | 57 | 52 | 41 |
P value = 0.00141 (Fisher's exact test), Q value = 0.22
nPatients | CLUS_1 | CLUS_2 |
---|---|---|
ALL | 56 | 110 |
7P LOSS MUTATED | 0 | 16 |
7P LOSS WILD-TYPE | 56 | 94 |
P value = 0.000194 (Fisher's exact test), Q value = 0.032
nPatients | CLUS_1 | CLUS_2 | CLUS_3 |
---|---|---|---|
ALL | 35 | 79 | 65 |
7P LOSS MUTATED | 10 | 2 | 5 |
7P LOSS WILD-TYPE | 25 | 77 | 60 |
P value = 3.95e-06 (Fisher's exact test), Q value = 0.00069
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 |
---|---|---|---|---|
ALL | 147 | 14 | 27 | 3 |
7Q LOSS MUTATED | 8 | 0 | 10 | 2 |
7Q LOSS WILD-TYPE | 139 | 14 | 17 | 1 |
P value = 1.14e-05 (Chi-square test), Q value = 0.002
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 | CLUS_5 |
---|---|---|---|---|---|
ALL | 46 | 44 | 61 | 14 | 20 |
7Q LOSS MUTATED | 1 | 0 | 17 | 1 | 1 |
7Q LOSS WILD-TYPE | 45 | 44 | 44 | 13 | 19 |
P value = 7.26e-05 (Fisher's exact test), Q value = 0.012
nPatients | CLUS_1 | CLUS_2 | CLUS_3 |
---|---|---|---|
ALL | 35 | 79 | 65 |
7Q LOSS MUTATED | 11 | 2 | 6 |
7Q LOSS WILD-TYPE | 24 | 77 | 59 |
P value = 0.000504 (Fisher's exact test), Q value = 0.082
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 |
---|---|---|---|---|
ALL | 147 | 14 | 27 | 3 |
15Q LOSS MUTATED | 0 | 0 | 3 | 1 |
15Q LOSS WILD-TYPE | 147 | 14 | 24 | 2 |
P value = 0.00151 (Fisher's exact test), Q value = 0.23
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 |
---|---|---|---|---|
ALL | 147 | 14 | 27 | 3 |
16Q LOSS MUTATED | 0 | 0 | 4 | 0 |
16Q LOSS WILD-TYPE | 147 | 14 | 23 | 3 |
P value = 1.97e-12 (Fisher's exact test), Q value = 3.5e-10
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 |
---|---|---|---|---|
ALL | 147 | 14 | 27 | 3 |
17P LOSS MUTATED | 0 | 0 | 13 | 0 |
17P LOSS WILD-TYPE | 147 | 14 | 14 | 3 |
P value = 5.11e-06 (Fisher's exact test), Q value = 0.00089
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 |
---|---|---|---|---|
ALL | 147 | 14 | 27 | 3 |
17Q LOSS MUTATED | 0 | 0 | 7 | 0 |
17Q LOSS WILD-TYPE | 147 | 14 | 20 | 3 |
P value = 0.000142 (Fisher's exact test), Q value = 0.024
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 |
---|---|---|---|---|
ALL | 147 | 14 | 27 | 3 |
18P LOSS MUTATED | 0 | 0 | 5 | 0 |
18P LOSS WILD-TYPE | 147 | 14 | 22 | 3 |
P value = 0.00151 (Fisher's exact test), Q value = 0.23
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 |
---|---|---|---|---|
ALL | 147 | 14 | 27 | 3 |
18Q LOSS MUTATED | 0 | 0 | 4 | 0 |
18Q LOSS WILD-TYPE | 147 | 14 | 23 | 3 |
P value = 0.000101 (Fisher's exact test), Q value = 0.017
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 |
---|---|---|---|---|
ALL | 147 | 14 | 27 | 3 |
XQ LOSS MUTATED | 0 | 0 | 4 | 1 |
XQ LOSS WILD-TYPE | 147 | 14 | 23 | 2 |
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Copy number data file = transformed.cor.cli.txt
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Molecular subtypes file = LAML-TB.transferedmergedcluster.txt
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Number of patients = 191
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Number of significantly arm-level cnvs = 30
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Number of molecular subtypes = 6
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Exclude genes that fewer than K tumors have mutations, K = 3
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 multi-class clinical features (nominal or ordinal), Chi-square tests (Greenwood and Nikulin 1996) were used to estimate the P values using the 'chisq.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.