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Description
Description of feature
Add documentation how to use VEP with CHM13.
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Download VEP cache
https://www.ensembl.info/2024/08/09/cool-stuff-ensembl-vep-can-do-supporting-alternative-human-assemblies/
curl -O https://ftp.ensembl.org/pub/rapid-release/species/Homo_sapiens/GCA_009914755.4/ensembl/variation/2022_10/indexed_vep_cache/Homo_sapiens-GCA_009914755.4-2022_10.tar.gz tar xzf Homo_sapiens-GCA_009914755.4-2022_10.tar.gz -
Add the following parameters
--vep_cache_version 107
--vep_cache /path/to/downloaded_cache
Rest should be correct if using iGenomes. If not using iGenomes. Also include:
--vep_genome T2T-CHM13v2.0
--vep_species homo_sapiens_gca009914755v4
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