Name: Variant Effect Predictor (VEP) and the Loss-Of-Function Transcript Effect Estimator (LOFTEE) Plugin
License: VEP use is governed by the Apache 2.0 licenses, and LOFTEE use is governed by the MIT license.

Description

VEP determines the effect of genetic variants (SNPs, insertions, deletions, CNVs or structural variants) on genes, transcripts, and protein sequence, as well as regulatory regions. The European Bioinformatics Institute produces the VEP tool/db and releases updates every 1 - 6 months. The latest release contains 267 genomes from 232 species containing 5567663 protein coding genes. This dataset hosts the last 5 releases for human, rat, and zebrafish. Also, it hosts the required reference files for the Loss-Of-Function Transcript Effect Estimator (LOFTEE) plugin as it is commonly used with VEP.

Update Frequency

New packages are added as soon as they are available and confirmed to work with recent versions of Hail.

License

VEP use is governed by the Apache 2.0 licenses, and LOFTEE use is governed by the MIT license.

Documentation

https://hail-vep-pipeline.public.tennex.io/

Managed By

Tennex

See all datasets managed by Tennex.

Contact

https://www.tennex.io/contact

How to Cite

Variant Effect Predictor (VEP) and the Loss-Of-Function Transcript Effect Estimator (LOFTEE) Plugin was accessed on DATE from https://registry.opendata.aws/hail-vep-pipeline.

Usage Examples

Tools & Applications

Resources on AWS

Description

VEP and LOFTEE data

Resource type

S3 Bucket

Amazon Resource Name (ARN)

arn:aws:s3:::hail-vep-pipeline

AWS Region

us-east-1

AWS CLI Access (No AWS account required)

aws s3 ls --no-sign-request s3://hail-vep-pipeline/

Variant Effect Predictor (VEP) and the Loss-Of-Function Transcript Effect Estimator (LOFTEE) Plugin