Computational Molecular Biology 2025, Vol.15, No.4, 208-217 http://bioscipublisher.com/index.php/cmb 21 2 5 Standard Norms and Practical Applications 5.1 International guidelines and standards As sequencing technology is increasingly used in clinical diagnosis, international norms regarding bioinformatics processes have gradually taken shape. In 2018, Association for Molecular Pathology (AMP) and College of American Pathologists (CAP) jointly proposed 17 consensus recommendations for the validation of clinical NGS analysis processes (Roy et al., 2018) which can be regarded as a relatively systematic guideline in the industry. It not only talks about process design and development, but also involves aspects such as verification and quality control. For example, it is suggested that laboratories use reference materials to evaluate the detection rate of different variant types, establish error-monitoring mechanisms, and have professionals with bioinformatics backgrounds be responsible for process management (Roy et al., 2018). In the same year, the American College of Pathologists also included bioinformatics analysis in the laboratory checklist, requiring clinical laboratories to validate the analysis software, record upgrades, and conduct regular performance evaluations. An earlier step in the field of tumor sequencing - AMP released guidelines on targeted panel sequencing in 2017, clarifying the specific standards that the bioinformatics pipeline should achieve in terms of minimum variant frequency detection, background noise control, etc. (Jennings et al., 2017; Klee et al., 2023). EMQN in Europe has also repeatedly emphasized in its quality assessment guidelines that unifying bioinformatics processes is an important prerequisite for laboratory consistency. In addition to industry associations, the International Organization for Standardization (ISO) released the technical standard ISO/TS 23357:2023 (ISO 2023) specifically for genomic informatics in 2023, which put forward unified requirements for the analysis and sharing of clinical genomic data, with detailed norms covering data formats, variant naming, and quality reporting (Haanpääet al., 2025). It can be said that these international standards provide a clear reference framework for laboratories. If anyone wants their results to be recognized across institutions, following these requirements is basically an inevitable path. 5.2 Domestic norms and practices The standardization construction in China started a little later, but the progress has been very fast. With the entry of high-throughput sequencing into the fields of genetic disease and tumor diagnosis, the National Health Commission of the People’s Republic of China has successively issued multiple technical documents, requiring that the analysis processes in laboratories must be “accurate, controllable and traceable”. Meanwhile, domestic experts have also organized multiple consensus discussions. The “Consensus on the Standardization of the Entire Process of Clinical Testing for Next-Generation Sequencing of Genetic Diseases” is one of the more representative ones. It not only offers suggestions for each analysis stage but also lists commonly used software and recommended parameters, with the aim of promoting the unification of quality control, comparison, variant screening and reporting in the industry. Some large centers have taken the lead by establishing standardized analysis platforms, encapsulating modules such as quality control, comparison, variation identification, annotation, and reporting, and using automated assembly lines to reduce human differences (Chen et al., 2024). Some laboratories have even developed “one-click” systems. By simply uploading data, the system can automatically generate standard reports that meet clinical diagnostic requirements. In projects such as thalassemia and deafness gene screening, such standardized procedures have significantly enhanced the consistency of results among different batches and individuals, and also ensured the positive detection rate and the accuracy of reports. These experiences show that for international guidelines to be truly implemented, they must be optimized in light of domestic realities rather than simply copied. 5.3 Benefits of standardized processes From the perspective of practical effects, the benefits brought by standardized processes have become quite obvious. First of all, the results are more reliable. The false alarm and missed detection rates of laboratories that adopt a unified process have significantly decreased. For example, in laboratories using the GATK best practice processes, the sensitivity performance of single-gene genetic disease detection reaches over 99%, while laboratories using different pipelines in a decentralized manner often fail to reach this level. Secondly, efficiency has been significantly enhanced. Process standardization is often accompanied by automation. Many hospitals have compressed the reporting cycle of whole exome sequencing from the original two weeks to several days,
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