Question: All Possible Substitutions In The Human Reference Genome
gravatar for aravind ramesh
6.8 years ago by
aravind ramesh530 wrote:

I was recently reading the CADD paper, they say that "all 8.6 billion possible substitutions in the human reference genome (GRCh37)". I thought possible substituiions should be more than that because of the genome size is arround 3 billion bases. Why is it different ?

human • 2.4k views
ADD COMMENTlink modified 2.7 years ago by Biostar ♦♦ 20 • written 6.8 years ago by aravind ramesh530
gravatar for Pierre Lindenbaum
6.8 years ago by
France/Nantes/Institut du Thorax - INSERM UMR1087
Pierre Lindenbaum133k wrote:

count all ATGC bases in the genome:

$ cat human_g1k_v37.fasta | grep -v ">" | tr -d -c "[ATGCatgc]" | wc -c

2864785220*3 = 8,594,355,660 ~ "8.6 billion possible substitutions"

ADD COMMENTlink modified 6.8 years ago • written 6.8 years ago by Pierre Lindenbaum133k

To expand on what Pierre shows here, there are large stretches of the genome where the sequence has not been resolved and is represented by "N". These are especially common near the centromeres and telomeres.

ADD REPLYlink written 6.8 years ago by Chris Miller21k
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