TrinityCTAT / ctat-mutations

Mutation detection using GATK4 best practices and latest RNA editing filters resources. Works with both Hg38 and Hg19
https://github.com/TrinityCTAT/ctat-mutations
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dbSNP frequence question #131

Open teresa1997 opened 8 months ago

teresa1997 commented 8 months ago

Hi, I have a question about annotating with dbSNP. You write that you use dbSNP and gnomAD to annotate common variants, so do you filter dbSNP variants in advance for the ones that are not rare? Because in the output vcf I can't find the frequency for dbSNP annotated variants and I'm trying to understand if all those annotated in dbSNP are common or not. Thank you for your reply

Teresa

brianjohnhaas commented 8 months ago

Hi,

The dbsnp annotations are limited to those with at least 1% pop AF. For gnomad, it may go down to 0.1%.

Hope this helps

On Fri, Feb 9, 2024 at 11:45 AM Teresa @.***> wrote:

Hi, I have a question about annotating with dbSNP. You write that you use dbSNP and gnomAD to annotate common variants, so do you filter dbSNP variants in advance for the ones that are not rare? Because in the output vcf I can't find the frequency for dbSNP annotated variants and I'm trying to understand if all those annotated in dbSNP are common or not. Thank you for your reply

Teresa

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