CNV Enrichment Test Code

Reference Paper

Functional impact of global rare copy number variation in autism spectrum disorders.
Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, et al.
Nature. 2010 Jun 9 (Epub ahead of print)

Brief Description

This test was designed to assess which gene-sets are hit by CNVs, comparing cases to controls. It is a "self-contained" type test; unlike "competitive" tests, it does not rely on a gene-level statistics, but directly constructs a statistic at the gene-set level. It requires an input table connecting CNVs to patients (cases and controls). Please see the code below for a more detailed description of the input requirements.

Essential description of the test procedure:

For a more detailed description, please refer to the paper supplementaries

Code

The script below calls the functions in the zipped file at the bottom.

Script

Functions

Suppl/CNV_Pinto2010 (last edited 2010-09-14 23:38:41 by DanieleMerico)

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