Allelic fraction and AF histogram
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6.5 years ago

I've came across the concept of allelic fraction (AF) and the corresponding histogram, as in A. I am trying to better understand the biology behind those plots.

  1. When reading about AF and SNPs in cancer research, they always mention the fact that they're using heterozygous SNPs (informative SNPs). Why is this? In this case, what is the reference base (from the reference genome)?
  2. Concerning the histogram of the AF. If I understood correctly, we take some informative SNPs from a genomic segment and for each SNP we compute how many reads support the reference base. Then we have to generate an histogram of all these proportions, right?
sequencing tumor purity • 1.6k views
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