T/CI 085-2022 Technical standards for obtaining, processing, transmitting, storing, and analyzing portable nano-scale sequencing data

Scope

Scope: This document specifies the requirements for portable nanopore gene sequencing, experimental methods, data acquisition, processing (detection, encryption, compression), transmission, and analysis. This document is applicable to portable nanopore gene sequencing from biological samples such as sputum, blood, and feces, including portable protein nanopore sequencers, as well as solid-state nanopore sequencers based on probe hybridization sequencing technology. Main technical content: 3.1 Gene sequencing: The determination of the different base types of nucleic acid molecules, i.e., the composition or arrangement of adenine (A), guanine (G), cytosine (C), and thymine (T) or uracil (U) in nucleic acid molecules. [Source: YY/T 1723-2020] 3.2 Sequencing throughput: The number of gene fragments or the amount of deoxyribonucleic acid and ribonucleic acid that can be obtained from a single sequencing, expressed in bases. [Source: GB/T 30989-2014] 3.3 Probe: A small single-stranded nucleic acid molecule labeled artificially to recognize specific base sequences, i.e., a labeled single-stranded nucleic acid complementary to the nucleotide sequence (target sequence) being detected. [Source: GB/T 30989-2014] 3.4 Base calling: The process of converting electrical signals into sequence information during sequencing. 3.5 Translocation event: When a nucleic acid sequence passes through a nanopore, it causes a blockage of the nanopore, leading to a significant change in current during this period, which is called a translocation event. 3.6 Protein nanopore sequencing: Based on the interaction and spatial occupancy of biological molecules with protein nanopores, it reflects the detailed information of biological molecules in the form of current changes. It is significantly different from the second-generation sequencing gene sequencers. Its main features are that it can directly and real-time analyze any length of DNA or RNA fragments, with a small device size.

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