GB/T 45214-2025Data quality evaluation method of human whole genome sequencing (English PDF)

Foreword

This document is in accordance with the provisions of GB/T 1.1-2020 "Guidelines for standardization work Part 1: Structure and drafting rules for standardization documents" Drafting.

Please note that some of the contents of this document may involve patents. The issuing organization of this document does not assume the responsibility for identifying patents.

This document is proposed by the State Food and Drug Administration.

This document is under the jurisdiction of the National Technical Committee for Standardization of Medical Clinical Testing Laboratories and In Vitro Diagnostic Systems (SAC/TC136).

This document was drafted by: China Food and Drug Administration, Shenzhen MGI Intelligent Manufacturing Technology Co., Ltd., Shanghai Sildi Biomedical Science Technology Co., Ltd., Illumina (China) Scientific Instruments Co., Ltd., Beijing Genomics Institute of the Chinese Academy of Sciences (National Center for Bioinformatics Center), Cyna Biotech (Beijing) Co., Ltd., Shenzhen Hypros Biotech Co., Ltd., Beijing PanGenomics Gene Technology Co., Ltd.

Shenzhen Mingyi Intelligent Manufacturing Technology Co., Ltd., Shenzhen BGI Co., Ltd., Beijing Institute of Medical Device Inspection (Beijing Medical Device Inspection Institute Biological Protection Equipment Inspection and Research Center), Shanghai International Human Phenotype Group Research Institute.

The main drafters of this document are: Li Lili, Zhao Xia, He Qingzhong, Liu Fangfang, Ci Weimin, Chen Zitian, Chen Shifu, Hu Yunfu, Wu Jian, Peng Jiguang, Chen Fang, Wang Ruixia, Shi Leming, Ding Guohui, Huang Jie.

Method for quality assessment of human whole genome high-throughput sequencing data

1 Scope

This document defines the terms and definitions of human whole genome high-throughput sequencing data quality, specifies quality requirements, and describes the corresponding evaluation method.

This document applies to the data quality of whole genome sequencing of human genomic DNA samples using high-throughput gene sequencing technology. evaluate.

This document does not apply to dideoxy chain termination sequencing [Sanger sequencing] technology and single molecule sequencing technology, as well as human samples De novo sequencing, haplotype sequencing, and sequencing of human tumor tissue samples are not applicable to the animal, plant, virus, or bacterial species contained in human samples. Bacteria, parasites, etc.

2 Normative references

This document has no normative references.

3 Terms and definitions

The following terms and definitions apply to this document.