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Table 3 Contingency Table of Rare CNVs in a Window for a Case-Control Sample

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

(a)   
  Cases Controls
Subjects with at least One Affected Gene in Z ΣI(x i (Z)) ΣI(y i (Z))
Subjects without any Affected Genes in Z m 1 - ΣI(x i (Z)) m 0 - ΣI(y i (Z))
All Subjects m 1 m 0
(b)   
  Cases Controls
Affected Genes in Z Σx i (Z) Σy i (Z)
Affected Genes outside Z n 1 - Σx i (Z) n 0 - Σy i (Z)
All Affected Genes n 1 n 0
  1. (a) This table summarizes the cross-tabulation between the disease status (cases vs. controls) and the location of each gene affected by CNVs (inside vs. outside a scanning window Z) in terms of subject number. x i (Z) and y i (Z) denote to the number of genes in a window Z that were affected by CNVs of the i th case and control, respectively. m 1 and m 0 denote the total number of subjects with genes affected by CNVs in cases and controls, respectively. "Affected genes" mean genes affected by CNVs in a sample. I(a) is an indicator variable taking the value 1 if a > 0 and 0 otherwise.
  2. (b) This table summarizes the cross-tabulation between disease status (cases vs. controls) and the location of each gene affected by CNVs (inside vs. outside a scanning window Z) in terms of a gene count. x i (Z) and y i (Z) denote the number of genes in a window Z that were affected by CNVs of the i th case and control, respectively. n 1 and n 0 denote the total number of genes affected by CNVs in cases and controls, respectively. "Affected genes" mean genes affected by CNVs.