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INDELs VEP anntotation Consequence is missense_variant #4

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pl618 opened this issue Apr 22, 2020 · 2 comments
Open

INDELs VEP anntotation Consequence is missense_variant #4

pl618 opened this issue Apr 22, 2020 · 2 comments
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@pl618
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pl618 commented Apr 22, 2020

cmd_vep_indel=vep_path + " -i " + somatic_out_fold + '/' + prefix + '_'+ 'INDELs_only.recode.vcf' + " --cache --dir " + vep_cache_path + " --dir_cache " + vep_cache_path + " --force_overwrite --canonical --symbol -o STDOUT --offline | filter_vep --ontology --filter \"Consequence is missense_variant\" -o " + somatic_out_fold + '/' + prefix + '_'+ 'mutect_indel_vep_ann.txt' + " --force_overwrite"

For INDELs, it seems that no Consequence is missense_variant ?

@renyongzhe
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cmd_vep_indel=vep_path + " -i " + somatic_out_fold + '/' + prefix + '_'+ 'INDELs_only.recode.vcf' + " --cache --dir " + vep_cache_path + " --dir_cache " + vep_cache_path + " --force_overwrite --canonical --symbol -o STDOUT --offline | filter_vep --ontology --filter \"Consequence is missense_variant\" -o " + somatic_out_fold + '/' + prefix + '_'+ 'mutect_indel_vep_ann.txt' + " --force_overwrite"

For INDELs, it seems that no Consequence is missense_variant ?

I think so. The Consequence is always frameshift or some else.

@ChiZhou-SITI
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ChiZhou-SITI commented Aug 4, 2020

Hi, all
You both are right!

Actually, Consequence for INDEL should be "coding_sequence_variant" and in the VEP annotation results, it might be "frameshift_variant" or "inframe_deletion" or something orther.
We have modified it and test it in several datasets.
Thank you for your feedback.

Best,
Chi

@ChiZhou-SITI ChiZhou-SITI added the question Further information is requested label Aug 5, 2020
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