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VEP behavior Problem #76

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jasonbhn opened this issue Jan 9, 2025 · 0 comments
Open

VEP behavior Problem #76

jasonbhn opened this issue Jan 9, 2025 · 0 comments
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enhancement New feature or request help wanted Extra attention is needed

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@jasonbhn
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jasonbhn commented Jan 9, 2025

VEP default use full GTF from ensembl. The consequence column takes into considerations of non protein coding transcript, therefore when only looking at high conf gene transcripts, "intron variants" shows up outside of gene, due to invisible exons.
Solution to this problem is to use SV location categories, ie when a variant is not genebody but VEP says intronic, change it to not intron variant.

@jasonbhn jasonbhn added enhancement New feature or request help wanted Extra attention is needed labels Jan 9, 2025
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