Annotating and prioritising genomic variants using the Ensembl Variant
Effect Predictor - a tutorial
Abstract
The Ensembl Variant Effect Predictor (VEP) is a freely available, open
source tool for the annotation and filtering of genomic variants. It
predicts variant molecular consequence using the Ensembl/GENCODE or
RefSeq gene sets. It also reports phenotype associations from databases
such as ClinVar, allele frequencies from studies including gnomAD, and
predictions of deleteriousness from tools such as SIFT and CADD. Ensembl
VEP includes filtering options to customise variant prioritisation. It
is well supported and updated roughly quarterly to incorporate the
latest gene, variant and phenotype association information. Ensembl VEP
analysis can be performed using a highly configurable, extensible
command-line tool, a Representational State Transfer (REST) application
programming interface (API) and a user-friendly web interface. These
access methods are designed to suit different levels of bioinformatics
experience and meet different needs in terms of data size, visualisation
and flexibility. In this tutorial, we will describe performing variant
annotation using the Ensembl VEP web tool, which enables sophisticated
analysis through a simple interface.