Exome Disease Variant analysis (eDiVA),

is a variant annotation and prioritization pipleine which

• Integrates multiple reliable information sources to better assess variants deleteriousness
• Integrates multiple damage predictors into one single score
• Helps researchers with an easy-to-use workflow to decide for potentially disease causing genic variants
• It includes information from human genome and transcriptome sequencing, data from different omics platforms specialized in the analysis of rare and complex diseases

This project developed anintegrated platform supporting the collection and storage of genome variation, expression, omics and clinical data to provide diagnostics assistance, to elucidate pathogenicity and to identify causal coding gene mutations.

Get eDiVA code

You will need to run git clone https://github.com/mbosio85/ediva.git to get eDiVA. No special compilinig is needed, eDiVA can work as a standalone application or using Docker containers.

Installation & running instruction

Please check the Wiki for all information about requirements and execution of the pipeline.

Quick path to eDiVA Docker implementation

If you are interested directly to the Docker implementation, just install nextflow and go to the Docker Section