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基因组诊断背景下的质量保证（德国视角）

Quality assurance within the context of genome diagnostics (a german perspective).

作者信息

Florian Kraft, Benet-Pagès Anna, Berner Daniel, Teubert Anna, Eck Sebastian, Arnold Norbert, Bauer Peter, Begemann Matthias, Sturm Marc, Kleinle Stephanie, B Haack Tobias, Eggermann Thomas

机构信息

Medizinische Fakultät der RWTH Aachen Institut für Humangenetik und Genommedizin Aachen Deutschland.

Institut für Neurogenomik Helmholtz Zentrum München Neuherberg Deutschland.

出版信息

Med Genet. 2023 Jun 13;35(2):91-104. doi: 10.1515/medgen-2023-2028. eCollection 2023 Jun.

DOI:10.1515/medgen-2023-2028
PMID:38840862
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10842579/
Abstract

The rapid and dynamic implementation of Next-Generation Sequencing (NGS)-based assays has revolutionized genetic testing, and in the near future, nearly all molecular alterations of the human genome will be diagnosable via massive parallel sequencing. While this progress will further corroborate the central role of human genetics in the multidisciplinary management of patients with genetic disorders, it must be accompanied by quality assurance measures in order to allow the safe and optimal use of knowledge ascertained from genome diagnostics. To achieve this, several valuable tools and guidelines have been developed to support the quality of genome diagnostics. In this paper, authors with experience in diverse aspects of genomic analysis summarize the current status of quality assurance in genome diagnostics, with the aim of facilitating further standardization and quality improvement in one of the core competencies of the field.

摘要

基于新一代测序（NGS）的检测方法的快速动态实施彻底改变了基因检测，在不久的将来，几乎所有人类基因组的分子改变都将通过大规模平行测序进行诊断。虽然这一进展将进一步证实人类遗传学在遗传疾病患者多学科管理中的核心作用，但必须同时采取质量保证措施，以便安全、优化地利用从基因组诊断中获得的知识。为实现这一目标，已开发了一些有价值的工具和指南来支持基因组诊断的质量。在本文中，在基因组分析各个方面具有经验的作者总结了基因组诊断质量保证的现状，旨在促进该领域核心能力之一的进一步标准化和质量改进。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c0a9/10842579/d042986aac2d/j_medgen-2023-2028_cv_012.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c0a9/10842579/fcfaee373a9f/j_medgen-2023-2028_fig_002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c0a9/10842579/afcb903e5303/j_medgen-2023-2028_cv_001.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c0a9/10842579/9ec8179d274c/j_medgen-2023-2028_cv_007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c0a9/10842579/8281646106ce/j_medgen-2023-2028_cv_008.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c0a9/10842579/162faccd5c10/j_medgen-2023-2028_cv_009.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c0a9/10842579/5d72b20b97e1/j_medgen-2023-2028_cv_010.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c0a9/10842579/d8ff070ff4ac/j_medgen-2023-2028_cv_011.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c0a9/10842579/d042986aac2d/j_medgen-2023-2028_cv_012.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c0a9/10842579/93668d2409b2/j_medgen-2023-2028_fig_001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c0a9/10842579/fcfaee373a9f/j_medgen-2023-2028_fig_002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c0a9/10842579/afcb903e5303/j_medgen-2023-2028_cv_001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c0a9/10842579/4e39c7fda85f/j_medgen-2023-2028_cv_002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c0a9/10842579/78f471f9a9bc/j_medgen-2023-2028_cv_003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c0a9/10842579/da1db1bc2ecf/j_medgen-2023-2028_cv_004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c0a9/10842579/2fb79985fcce/j_medgen-2023-2028_cv_005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c0a9/10842579/3055209f4d6f/j_medgen-2023-2028_cv_006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c0a9/10842579/9ec8179d274c/j_medgen-2023-2028_cv_007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c0a9/10842579/8281646106ce/j_medgen-2023-2028_cv_008.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c0a9/10842579/162faccd5c10/j_medgen-2023-2028_cv_009.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c0a9/10842579/5d72b20b97e1/j_medgen-2023-2028_cv_010.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c0a9/10842579/d8ff070ff4ac/j_medgen-2023-2028_cv_011.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c0a9/10842579/d042986aac2d/j_medgen-2023-2028_cv_012.jpg

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