VEP 注释

VEP 注释

Ensembl Variant Effect Predictor (VEP)
VEP determines the effect of your variants (SNPs, insertions, deletions, CNVs or structural variants) on genes, transcripts, and protein sequence, as well as regulatory regions.

1.下载安装
http://asia.ensembl.org/info/docs/tools/vep/script/vep_download.html

2.数据库下载
基因组数据库
ftp://ftp.ncbi.nlm.nih.gov/genomes/all/GCA/000/001/405/GCA_000001405.15_GRCh38/seqs_for_alignment_pipelines.ucsc_ids/GCA_000001405.15_GRCh38_no_alt_analysis_set.fna.gz

CADD数据库下载；
https://cadd.gs.washington.edu/download

VEP database
curl -O ftp://ftp.ensembl.org/pub/release-100/variation/vep/homo_sapiens_vep_100_GRCh38.tar.gz

VEP plugins
http://asia.ensembl.org/info/docs/tools/vep/script/vep_plugins.html
https://github.com/Ensembl/VEP_plugins

3.运行

./conda install tabix
perl ./vep