The future role of facial image analysis in ACMG classification guidelines.

IF 0.8 4区 生物学 Q4 GENETICS & HEREDITY
Medizinische Genetik 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
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引用次数: 0

Abstract

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.

面部图像分析在ACMG分类指南中的未来作用
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。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Medizinische Genetik
Medizinische Genetik Medicine-Genetics (clinical)
CiteScore
1.40
自引率
9.10%
发文量
48
审稿时长
>12 weeks
期刊介绍: medizinischegenetik is a scientific journal that is owned and published by the German Society of Human Genetics e.V. since 1989. The journal was founded by Prof. Jan Murken, München. Self-published until 2006, from 2007-2019 published at Springer Verlag and since 2020 at De Gruyter. medizinischegenetik serves education and training among colleagues, the interdisciplinary exchange of knowledge in all areas of human genetics in clinics, practice, research and teaching. Each issue of the quarterly journal deals with a focus that provides a comprehensive overview of current developments in specific clinical pictures, technical developments and therapeutic approaches. All reviews are written in English language. The journal thus creates a platform for the international exchange of knowledge and increased awareness of German research activities in the scientific community. In addition, medizinischegenetik contains information on activities in its own subject in the German-language section. This includes conference reports, association announcements, personnel matters, statements and guidelines. With health policy questions, historical retrospectives and comments on current developments, the profession takes a stand on human genetic issues in Germany, Austria and Switzerland.
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