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GB/T 47347-2026Information technology - Biometrics - Annotation format for genotyping data based on high-throughput sequencing (English PDF)

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

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Issued by

SAMR; SAC

Level / Type

National · Recommended

Issue date

March 31, 2026

Implementation date

October 1, 2026

Scope

GB/T 47347-2026 is the English-translated version of 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.

GB/T 47347-2026 is the Chinese standard "Information technology - Biometrics - Annotation format for genotyping data based on high-throughput sequencing". Its scope clause reads: This document specifies the annotation format requirements for human genotyping data generated by high-throughput sequencing.

This document applies to the storage, exchange, and comparison of human genotyping data generated by high-throughput sequencing. Its clauses include terms and definitions.

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Document preview — GB/T 47347-2026

National Standard of the People's Republic of China

ICS: 35.240.15
Classification: L 73

Issued by: State Administration for Market Regulation; Standardization Administration of the PRC

Preface
1.Scope
2 Normative References
3.Terms and Definitions
4.Abbreviations
5.Annotation Formatting Requirements
Appendix A (Informative) Example of Genotyping Data Annotation
References

1 Scope

This document specifies the annotation format requirements for human genotyping data generated by high-throughput sequencing.

This document applies to the storage, exchange, and comparison of human genotyping data generated by high-throughput 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 high-throughput sequencing

A technology that enables parallel sequencing of a large number of nucleic acid molecules in one go.

Note. Typically, a single sequencing reaction can produce at least 100Mb of sequencing data.

[Source. GB/T 33767.14-2023, 3.1, with modifications]

3.2

A digital nucleotide sequence database assembled from the genome sequences of multiple human individuals.

Note. Human reference genome sequences are commonly used as benchmark genome reference sequences. The most commonly used version of the human reference genome sequence is GRCh38.

Save in FASTA format.

3.3 Short tandem repeat (STR)

The tandem repeat sequences on chromosomes, with repeat units ranging from 2bp to 6bp, exhibit high individual variability.

[Source. GB/T 33767.14-2023, 3.14]

3.4

Deoxyribonucleic acid sequence polymorphism caused by changes in a single nucleotide.

[Source. GB/T 33767.14-2023, 3.15]

3.5 Insertion deletion; InDel

Sexual genetic markers.

3.6 Mitochondrial DNA (MtDNA)

Genetic material in mitochondria.

......
This preview omits tables, figures, formulas and parts of the technical clauses. The complete document — 12 pages — is available in the English PDF.

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