VCF-DART_example_exomes

A few example exomes in vcf format for testing the VCF-DART annotation and reporting tool.

Four exomes derived from publicly available data have been deposited in this repository for review and testing purposes. They may be uploaded to the VCF-DART instance and run through the annotation tool, and then viewed in the VCF-DART Viewer tool.

NB: Example gene lists have also been deposited here to use for review/testing purposes only.

Notes to reviewers:

• There are two exomes (and associated dummy coverage stats files) assigned to each reviewer, this is signified in the file names.
• This repository can be downloaded/cloned to a local machine and then vcf and text files uploaded to the VCF-DART webserver.
• When entering the required details into VCF-DART please follow this example (using HG103_GBR_exome_Reviewer_01.vcf.gz in this example):
  • in the Sample ID field use HG103
  • in the Label field use 01
  • dummy gene lists are also provided, these can be uploaded using the file selection tools in VCF-DART
  • the fields User Name and Run ID can be set as anything the user desires
  • the Output Directory Name requires the inclusion of the supplied Sample ID at least, and it is good practice to include the label and date, i.e. HG103_01_20190415
  • the Genome Build must be set as hg19 (default), the hg38 version is still in development

Please don't hesitate to contact the authors with issues or queries.