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Bioinformatics with R Cookbook by Paurush Praveen Sinha

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Association tests with CNV data

So far, we have discussed SNPs a lot. Copy Number Variation (CNV) refers to a phenomenon where for certain genes, there exists a normal variation in the number of copies of one or more sections of the DNA. CNVs are an important component of structural variation in the human genome and are potentially critical in terms of their genetic contribution to the risk of common complex diseases. Just like the SNP-based association analysis that we saw so far, the CNV association analysis can play a crucial role in understanding many complex phenotypes and diseases. This recipe will introduce some methods to perform such an analysis.

Getting ready

We will use the CNVassoc package for our recipe here, which is available from ...

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