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Medizinische Genetik最新文献

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Einladung zur BVDH-Herbsttagung am 10. und 11.11.2023 : Hotel Scandic Berlin Potsdamer Platz, Gabriele-Tergit-Promenade 19, 10963 Berlin. 秋季会议的筹备人:和11.11.2023
IF 0.8 4区 生物学 Q4 GENETICS & HEREDITY Pub Date : 2023-08-16 eCollection Date: 2023-09-01 DOI: 10.1515/medgen-2023-2032
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引用次数: 0
Frontmatter 头版头条
4区 生物学 Q4 Medicine Pub Date : 2023-08-08 DOI: 10.1515/medgen-2023-frontmatter3
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引用次数: 0
35. Tumorgenetische Arbeitstagung 2023 : 20.–22.04.2023, Rostock. 35.肿瘤基因研讨会2023
IF 1.1 4区 生物学 Q4 Medicine Pub Date : 2023-06-13 eCollection Date: 2023-06-01 DOI: 10.1515/medgen-2023-2025
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引用次数: 0
The future role of facial image analysis in ACMG classification guidelines. 面部图像分析在ACMG分类指南中的未来作用
IF 1.1 4区 生物学 Q4 Medicine Pub Date : 2023-06-13 eCollection Date: 2023-06-01 DOI: 10.1515/medgen-2023-2014
Hellen Lesmann, Hannah Klinkhammer, Prof Dr Med Dipl Phys Peter M Krawitz

The use of next-generation sequencing (NGS) has dramatically improved the diagnosis of rare diseases. However, the analysis of genomic data has become complex with the increasing detection of variants by exome and genome sequencing. The American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) developed a 5-tier classification scheme in 2015 for variant interpretation, that has since been widely adopted. Despite efforts to minimise discrepancies in the application of these criteria, inconsistencies still occur. Further specifications for individual genes were developed by Variant Curation Expert Panels (VCEPs) of the Clinical Genome Resource (ClinGen) consortium, that also take into consideration gene or disease specific features. For instance, in disorders with a highly characerstic facial gestalt a "phenotypic match" (PP4) has higher pathogenic evidence than e.g. in a non-syndromic form of intellectual disability. With computational approaches for quantifying the similarity of dysmorphic features results of such analysis can now be used in a refined Bayesian framework for the ACMG/AMP criteria.

新一代测序技术(NGS)的应用极大地改善了罕见病的诊断。然而,随着外显子组和基因组测序对变异检测的增加,基因组数据的分析变得越来越复杂。美国医学遗传学和基因组学学院(ACMG)和分子病理学协会(AMP)在2015年制定了一个5层分类方案,用于变异解释,该方案已被广泛采用。尽管努力尽量减少这些标准应用中的差异,但不一致的情况仍然存在。临床基因组资源(ClinGen)联盟的变异管理专家小组(vcep)制定了个体基因的进一步规范,也考虑了基因或疾病的特定特征。例如,在具有高度特征的面部完形的疾病中,“表型匹配”(PP4)比非综合征形式的智力残疾具有更高的致病证据。通过计算方法来量化畸形特征的相似性,这种分析的结果现在可以用于ACMG/AMP标准的改进贝叶斯框架。
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引用次数: 0
Diagnostic genomic sequencing in critically ill children. 危重儿童诊断性基因组测序
IF 1.1 4区 生物学 Q4 Medicine Pub Date : 2023-06-13 eCollection Date: 2023-06-01 DOI: 10.1515/medgen-2023-2015
Bernd Auber, Gunnar Schmidt, Chen Du, Sandra von Hardenberg

Rare genetic diseases are a major cause of severe illnesses and deaths in new-borns and infants. Disease manifestation in critically ill children may be atypical or incomplete, making a monogenetic disease difficult to diagnose clinically. Rapid exome or genome ("genomic") sequencing in critically ill children demonstrated profound diagnostic and clinical value, and there is growing evidence that the faster a molecular diagnosis is established in such children, the more likely clinical management is influenced positively. An early molecular diagnosis enables treatment of critically ill children with precision medicine, has the potential to improve patient outcome and leads to healthcare cost savings. In this review, we outline the status quo of rapid genomic sequencing and possible future implications.

罕见遗传病是导致新生儿和婴儿严重疾病和死亡的主要原因。危重症患儿的疾病表现可能不典型或不完整,使单基因疾病难以临床诊断。对危重儿童进行快速外显子组或基因组(“基因组”)测序显示出深刻的诊断和临床价值,越来越多的证据表明,对这些儿童进行分子诊断的速度越快,临床管理就越有可能受到积极影响。早期分子诊断能够对危重儿童进行精准医学治疗,有可能改善患者的预后,并节省医疗成本。在这篇综述中,我们概述了快速基因组测序的现状和可能的未来影响。
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引用次数: 0
Herbstagung 2023.
IF 1.1 4区 生物学 Q4 Medicine Pub Date : 2023-06-13 eCollection Date: 2023-06-01 DOI: 10.1515/medgen-2023-2016
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引用次数: 0
Komplexgenetik – GWAS, Interpretation und Follow-up + Akademiekurs Huntington. 复杂遗传学——亨廷顿学院课程的GWAS、解释和后续研究
IF 1.1 4区 生物学 Q4 Medicine Pub Date : 2023-06-13 eCollection Date: 2023-06-01 DOI: 10.1515/medgen-2023-2023
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引用次数: 0
Quality assurance within the context of genome diagnostics (a german perspective). 基因组诊断背景下的质量保证(德国视角)
IF 1.1 4区 生物学 Q4 Medicine Pub Date : 2023-06-13 eCollection Date: 2023-06-01 DOI: 10.1515/medgen-2023-2028
Kraft Florian, Anna Benet-Pagès, Daniel Berner, Anna Teubert, Sebastian Eck, Norbert Arnold, Peter Bauer, Matthias Begemann, Marc Sturm, Stephanie Kleinle, Tobias B Haack, Thomas Eggermann

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.

基于新一代测序(NGS)的检测技术的快速和动态实施已经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,但它必须伴随着质量保证措施,以便能够安全和最佳地使用从基因组诊断中确定的知识。为了实现这一目标,已经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,作者在基因组分析的各个方面的经验总结了基因组诊断的质量保证的现状,以促进进一步的标准化和质量的提高,在该领域的核心竞争力之一。
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引用次数: 0
Editorial - Diagnostic genome sequencing in rare disorders. 罕见疾病的诊断性基因组测序
IF 1.1 4区 生物学 Q4 Medicine Pub Date : 2023-06-13 eCollection Date: 2023-06-01 DOI: 10.1515/medgen-2023-2029
Peter Krawitz, Tobias B Haack
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引用次数: 0
Protokoll der 35. ordentlichen Mitgliederversammlung der Deutschen Gesellschaft für Humangenetik am 16.03.2023 anlässlich der 34. GfH-Jahrestagung in Kassel, 15.–17.3.2023. 35号公路的纪录2023年3月16日德国人类遗传学协会常会gcc年年会2023年5月15日
IF 1.1 4区 生物学 Q4 Medicine Pub Date : 2023-06-13 eCollection Date: 2023-06-01 DOI: 10.1515/medgen-2023-2022
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引用次数: 0
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Medizinische Genetik
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