Friday, 22 June 2012

Why You Should Care About Segmental Duplications | Our 2 SNPs…(R)

excellent blog post showing how segmental duplications can skew ur CNV analysis & SNP calling. The latter was something I wasn't aware of ....

Excerpted ...

Alert followers of this blog may recall a cautionary statement I made

previously about working with Illumina CNV data — that males and

females sometimes have different baseline signal intensity levels (this

was more of a GenomeStudio software issue than a hardware problem).

To find out if this issue affects the Omni2.5, I ran a simple t-test to

compare the Log-R Ratio (LR) intensity values between males and

females across the genome. The results are shown in the Manhattan Plot


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Datanami, Woe be me