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VEP 113 #640

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dnil opened this issue Oct 22, 2024 · 3 comments · Fixed by #639
Closed

VEP 113 #640

dnil opened this issue Oct 22, 2024 · 3 comments · Fixed by #639
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enhancement Improvement for existing functionality

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@dnil
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dnil commented Oct 22, 2024

Description of feature

Out now! 😸

https://github.com/Ensembl/ensembl-vep/releases/tag/release%2F113.0
https://grch37.ensembl.org/info/docs/tools/vep/script/vep_download.html

Nice with CADD 1.7, gnomad 4.1 and interesting with the Parlogues plugin to somewhat selectively bring in variants from paralogous regions. Thinking about that KRT6-family eg.

@dnil dnil added the enhancement Improvement for existing functionality label Oct 22, 2024
@jemten jemten linked a pull request Oct 22, 2024 that will close this issue
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@jemten
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jemten commented Oct 22, 2024

@ramprasadn has tested version 113 and found that certain BNDs are not annotated by VEP, Ensembl/ensembl-vep#1774

@dnil
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dnil commented Oct 22, 2024

Well spotted!

@ramprasadn
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VEP 113 is now integrated into our pipeline for those interested in utilizing it.

However @dnil, it appears that BNDs overlapping intergenic variants are not being annotated by this version. The Ensembl team has acknowledged this issue and is actively investigating it. I hope they will resolve it in the next release. Given this bug, I don’t believe it is suitable for production use at CG at this time. I will close this issue for now. Please feel free to reopen it if necessary.

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3 participants