how to filter based on FREQ from snpsift annotation for vcf files?
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2.2 years ago
yellowtea • 0

After annotating by snpsift, how could I filter based on FREQ?

For example, a record with the following annotation, and I would like to filter based on GnomAD. How should I write the expression? Many thanks!

Note there are four value, the first is the ref with frequency of 0.3163, and the alt represented in the record has a freq of 0.6837. "." means other variants are not found for this sample.

FREQ=GENOME_DK:0.05556,.,0.9444,.|GnomAD:0.3163,.,0.6837,.|KOREAN:0.1405,0,0.8595,0|SGDP_PRJ:0.0181,0.002262,0.9751,0.004525|TOMMO:0.1327,.,0.8673,.|dbGaP_PopFreq:0.0779,.,0.9221,.
vcf snpsift • 1.2k views
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What have you tried? Did you google "filter VCF based on INFO attribute"?

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Yes, I have tried. In the documentation of snpsift filter, the expression for INFO fields other than ANN are not clear. And I am not sure how to deal with "." in the annotation of "GnomAD:0.3163,.,0.6837,.".

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Look at other, more basic ways of filtering VCF files.

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bcftools view might be helpful, but do you have more specific ideas how to filter the FREQ field, it looks quite complicated to me.

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bcftools view might be helpful

Yes - that's what you need. Look at include expressions.

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