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Chunk #44 — Procedures — Gene Set Enrichment Analysis of De Novo CNVs

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High frequencies of de novo CNVs in bipolar disorder and schizophrenia.
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number of genes impacted in the observed data (± 10 genes). This procedure led to 1,000–2,000 permutations of null hypothesis CNV sets each for the bipolar, schizophrenia, and control de novo CNV sets. Significance for each of the query pathways was assessed by counting the number of pathway genes impacted by each null hypothesis CNV set, thus leading to a null distribution against which we could compare the number of observed hits and calculate enrichment p values.