Welcome to the CNV - Quality Assurance Tutorial!ΒΆ


Updated: March 1st, 2014

Level: Advanced

Packages: CNV Analysis, Power Seat

This tutorial covers a typical workflow for quality assurance procedures for whole genome CNV analysis. It also includes some discussion of importing and processing raw data files prior to beginning a CNV analysis project. The tutorial is built around the Affymetrix 500K array, but the workflows are generally applicable to most genotyping arrays and aCGH platforms. There are some anomalies with Illumina data where certain analysis steps may not directly apply. For more information on what to watch for with Illumina data, see CNV Analysis Tips for Illumina Data.


To complete this tutorial you will need to download and unzip the following file, which includes several datasets.

File included in the above ZIP file:

  • Sample CNV Data Project file - contains Matching, LogR (samples columnwise and rowwise, explained further in tutorial) and Phenotype spreadsheets.

We hope you enjoy the experience and look forward to your feedback.