CNV (copy number variation), LOH & VAF (variation allele frequency)

Question

[PhStudent]

Hy ! Can somebody explain to me te use of CNV (copy number variation), VAF (variation of allele frequency) and LOH (loss of heterozygoty) in genome/exome studies ?? I have an article about Sci-clone, a graphic with multiple genes (that came from "WES = Whole exom sequencing", their VAF and SIFT (I understand that this is a prediction device to kind of predict the effet of the anomaly detected) but since I don't know the technique I can't link all those informations !

I am fairly new to modelisation so, in this, I kind of really need a step-by-step explanation. I can't find anything on the internet.

Thanks in advance !

[Fabio Marroni]

Welcome to Biostars!

I can't find anything on the internet.

What did you look for? If you search the internet for CNV (or LOH) + exome sequencing you will find thousands of papers. I am not sure about "VAF". Maybe different synonyms are more used then "VAF"?