Standard No.:	GB/T 47347-2026
English Name:	Information technology—Biometrics—Annotation format for genotyping data based on high-throughput sequencing
Chinese Name:	信息技术 生物特征识别 高通量测序基因分型数据注释格式
Chinese Classification:	L73    Information processing system design and documentation
Professional Classification:	GB    National Standard
ICS Classification:	35.240.15 35.240.15    Identification cards and related devices 35.240.15
Source Content Issued by:	SAMR, SAC
Issued on:	2026-03-31
Implemented on:	2026-10-1
Status:	to be valid
Target Language:	English
File Format:	PDF
Word Count:	9000 words
Translation Price(USD):	270.0
Delivery:	via email in 1~3 business day

GB/T 47347-2026 Information technology—Biometrics—Annotation format for genotyping data based on high-throughput sequencing English, Anglais, Englisch, Inglés, えいご This is a draft translation for reference among interesting stakeholders. The finalized translation (passing through draft translation, self-check, revision and verification) will be delivered upon being ordered. ICS CCS National Standard of the People's Republic of China ‌GB/T 47347-2026 Information technology - Biometrics - Annotation format for genotyping data based on high-throughput sequencing 信息技术 生物特征识别 高通量测序基因分型数据注释格式 Issue date: 2026-03-31 Implementation date: 2026-10-01 Issued by the General Administration of Quality Supervision, Inspection and Quarantine of the People's Republic of China the Standardization Administration of the People's Republic of China Contents Foreword 1 Scope 2 Normative References 3 Terms and Definitions 4 Abbreviations 5 Requirements for Annotation Format Annex A (Informative) Example of Genotyping Data Annotation Bibliography Information technology — Biometrics — Annotation format for highthroughput sequencing genotyping data 1 Scope This document specifies the requirements for the annotation format of human genotyping data generated by highthroughput sequencing. This document applies to the storage, exchange and comparison of human genotyping data generated by highthroughput sequencing. 2 Normative References This document has no normative references. 3 Terms and Definitions The following terms and definitions apply to this document. 3.1 highthroughput sequencing A technology that enables the parallel sequencing of a large number of nucleic acid molecules in a single run. NOTE: Typically, a single sequencing run can produce no less than 100 Mb of sequencing data. [Source: GB/T 33767.14-2023, 3.1, modified] 3.2 reference sequence of human genome A digital nucleotide sequence database assembled from the genome sequences of multiple human individuals. NOTE: The human reference genome sequence is typically used as a benchmark genomic reference sequence. The most commonly used version of the human reference genome sequence is currently GRCh38, stored in FASTA format. 3.3 short tandem repeat; STR Tandem repeats on a chromosome with a repeat unit of 2 bp to 6 bp, exhibiting a high degree of individual variation. [Source: GB/T 33767.14-2023, 3.14] 3.4 single nucleotide polymorphism; SNP A DNA sequence polymorphism resulting from a single nucleotide change. [Source: GB/T 33767.14-2023, 3.15] 3.5 insertion deletion; InDel A class of polymorphic genetic markers formed by the insertion or deletion of deoxyribonucleic acid (DNA) fragments of varying lengths in the genome. 3.6 mitochondrial DNA; MtDNA The genetic material found in mitochondria. 3.7 microhaplotype; MH A combination of multiple SNPs that are coinherited on the same chromosome, typically with a length not exceeding 300 bp. 3.8 metainformation The basic information for the annotation of highthroughput sequencing genotyping data. NOTE: Includes information such as the annotation file format, file generation date, highthroughput sequencing platform, genotyping software and reference genome. 3.9 keyinformation Identifiers defined in metainformation lines or data fields and their associated sets of attributes, used for standardised parsing of variant data and genotype information. NOTE: Includes the key name (ID), data type (Type), number of values (Number) and description (Description). 3.10 quality score Q A quality assessment value for the genotype inference of a genetic marker in a sample. NOTE: Q = –10 lg(p), where p represents the probability that the genotype of the genetic marker is incorrect.