Chunk #5 — Method — Statistical Analysis of Rare CNV Data

Source

Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3.

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To perform locus-specific tests of association, we first defined test regions according to the genomic boundaries for each CNV identified in the entire sample. Where multiple CNVs identified in different samples overlapped, they were merged to create a single locus that encompassed all overlapping CNVs. PLINK was then used to determine the number of CNVs present within each test region in case and comparison subjects. Locus-specific tests of association were made using PLINK, again with the significance being assessed via permutation (10,000 permutations, one-sided test).