SNP identity checks (Sample Matching Service)

The Sample Matching Service allows positive sample identification by comparing a VCF file produced locally at an NHS GLH (using, for example, a SNP genotyping assay) with a VCF file produced from Rare Disease Pipeline 2.0. For all cases passing genomic identity checks, the results of the sample matching service will be automatically displayed in the Interpretation Portal.

When queries are raised by the Genomic Identity checks, the result of the sample matching service will be incorporated into the query investigation and provided to the GLH via the sample failures report. Further details about the Sample Matching Service are available in the Sample Matching Service – Spec for Positive Sample Identification document.