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Table 2 The 20 Most Significant Gene Sets from the ASD Dataset for Deletions

From: A scan statistic to extract causal gene clusters from case-control genome-wide rare CNV data

Gene Set Name

nominal p-value

FDR q-value

Holm's p-value

Overlap proportion

NIKOLSKY_BREAST_CANCER_8Q23_Q24_AMPLICON

1.876E-05

0.061

0.061

0.051

PEREZ_TP53_TARGETS

9.768E-05

0.078

0.319

0.019

REACTOME_RNA_POLYMERASE_I_III_AND_MITOCHONDRIAL_TRANSCRIPTION

1.026E-04

0.078

0.336

0.092

ONKEN_UVEAL_MELANOMA_UP

1.065E-04

0.078

0.348

0.098

BROWNE_HCMV_INFECTION_24HR_DN

1.187E-04

0.078

0.388

0.065

REACTOME_RNA_POLYMERASE_I_PROMOTER_CLEARANCE

1.490E-04

0.081

0.487

0.098

BLALOCK_ALZHEIMERS_DISEASE_INCIPIENT_UP

1.937E-04

0.091

0.633

0.052

STARK_HYPPOCAMPUS_22Q11_DELETION_DN

0.001

0.218

1.000

0.115

KEGG_GAP_JUNCTION

0.001

0.218

1.000

0.133

DAIRKEE_TERT_TARGETS_UP

0.001

0.218

1.000

0.111

BLALOCK_ALZHEIMERS_DISEASE_UP

0.001

0.229

1.000

0.062

RODWELL_AGING_KIDNEY_UP

0.001

0.229

1.000

0.067

WALLACE_PROSTATE_CANCER_RACE_UP

0.001

0.268

1.000

0.035

AMUNDSON_RESPONSE_TO_ARSENITE

0.001

0.284

1.000

0.105

NIKOLSKY_BREAST_CANCER_16P13_AMPLICON

0.001

0.284

1.000

0.050

CHARAFE_BREAST_CANCER_LUMINAL_VS_MESENCHYMAL_UP

0.001

0.284

1.000

0.039

FLECHNER_BIOPSY_KIDNEY_TRANSPLANT_REJECTED_VS_OK_DN

0.001

0.284

1.000

0.123

IZADPANAH_STEM_CELL_ADIPOSE_VS_BONE_UP

0.002

0.327

1.000

0.045

BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_UP

0.002

0.341

1.000

0.057

HSIAO_HOUSEKEEPING_GENES

0.002

0.360

1.000

0.260

  1. This table lists the 20 most statistically significant gene sets as determined by a one-tailed Fisher's exact test, according to Pinto [12]. This analysis was based on the 2 × 2 contingency table shown in Table 3b. Multiple testing was adjusted using Benjamini-Hochberg and Holm's procedures. Results of unadjusted and adjusted tests (Benjamini-Hochberg and Holm's procedure) are referred to as nominal p-value, FDR q-value, and Holm's p-value, respectively. Overlap proportions with the gene cluster detected by the proposed test are referred to as overlap proportion.