Instructions

1. Select VCF file to upload
2. Specify genome build (default: GRCh37)
3. Optional: Specify genes of interest
4. Optional: Select transcript(s) for each gene
5. Provide email address - required to return results

Workflow

If gene(s) and transcript(s) are specified, only VCF calls which map within the boundaries of specified transcript(s) will be retained
Results will be returned by the batch validator tool via email
VCF calls will be returned in the format chrX-12345-REF-ALT

Upload VCF file

Select Genome Build

Limit search, optionally, to specific genes: Use HGNC gene symbols

Enter email address


On submission, results will be returned by email once processing is complete