search

nf-core / raredisease

Call and score variants from WGS/WES of rare disease patients.
https://nf-co.re/raredisease
MIT License
85 stars 34 forks source link

VEP 113 #640

Open dnil opened 4 hours ago

dnil commented 4 hours ago

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.

jemten commented 3 hours ago

@ramprasadn has tested version 113 and found that certain BNDs are not annotated by VEP, https://github.com/Ensembl/ensembl-vep/issues/1774

dnil commented 2 hours ago

Well spotted!