Oxford-Eye / SVRare-GEL

To discover rare structural variants from whole genome sequencing data

SVRare

Right now SVRare is adapted to be used in the Genomics England (GEL) research environment.

Import

In the import folder, one can configure the nextflow.config, then run:

nextflow run main.nf

Query

Given a list of family ids, one can go to the query folder, and run

nextflow run report_participant.nf