Retrieving Background Mutation Rate with Biomart
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9.7 years ago

I have used biomart quite a bit in the past to convert gene ID's or get dN/dS values, but I can't find any attribute in any obvious mart or dataset to retrieve background mutation rate.

This may just be a terminology problem, but I have dug around to no avail. Is there a way to access background mutation rate from biomart given a gene ID (say, TP53)?

Thanks very much for your help,

Marcus G.

biomart bioconductor • 2.4k views
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What do you mean by background mutation rate? In what context are you working (e.g., cancer)?

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Sorry - I should I have more specific. I want to compare mutation rate in cancer cells vs normal human mutation rates (specifically synonymous, silent substitutions).

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Background mutation rate over the entire genome would be sufficient, but it would obviously be better if it is possible to get gene specific rates, as well.

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9.7 years ago

I think background mutation rates are typically estimated from the data, not from population estimates. The reason for this is that different cancers will have different mutational profiles--there isn't a "normal human mutation rate" in that sense.

There are a number of tools for performing such analysis looking for evidence of mutational burden. MutSig and genome music are a couple of them. You might start by looking at these tools before rolling your own.

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