Annotate variants based on site mutability
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3.3 years ago

I want to conduct a rare variant association test and incorporate site mutability as a covariate.

In the ExAC paper they show that site mutability between CpG sites, transitions and transversions are very different. As sites with higher background mutability are more likely to be noise I want to control for this.

Is there any tools available to annotate a set of variants depending on which above category they fall into?

I have chromosome, position, transcript consequence and protein consequence fields in my dataset.

Many thanks for any replies I receive

annotation variant cpg mutability • 583 views

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