ISO/NP 25778

Genomics Informatics --Variant QR code in genetic test report

Апстракт

This document specifies the content, character encoding and symbology requirements for a variant QR (quick response) code that is printed on a genetic test report, so that human genomic variant information contained in the report can be reliably captured by scanning and submitted to a genomic knowledgebase.
This document is applicable to genetic test reports issued by clinical testing laboratories that report sequence variants (for example, single nucleotide variants and insertions or deletions) described using HGNC gene symbols and HGVS nomenclature.