Unable to Locate PolyPhen and SIFT SQLite Files for CHM13 Genome

Ensembl / ensembl-vep

The Ensembl Variant Effect Predictor predicts the functional effects of genomic variants

https://www.ensembl.org/vep

Apache License 2.0

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Open LuyaoRen opened 2 weeks ago

LuyaoRen commented 2 weeks ago

Hi,

I am trying to use VEP to annotate variants called against T2T-CHM13, and trying to predict missense variants deleteriousness, but the link to download homo_sapiens_pangenome_PolyPhen_SIFT_20240502.db is not working. Could you please update the link in the tutorial at https://www.ensembl.info/2024/08/09/cool-stuff-ensembl-vep-can-do-supporting-alternative-human-assemblies/ and https://useast.ensembl.org/info/docs/tools/vep/vep_faq.html

Thank you very much!

nakib103 commented 2 weeks ago

Hi @LuyaoRen,

Thanks for flagging this to us! The link in the tutorial is fixed. We are also fixing the one in the faq page.