风湿病学家临床遗传学原理:广泛基因检测的临床适应症和解释。

IF 2 4区 医学 Q3 RHEUMATOLOGY Advances in Rheumatology Pub Date : 2024-08-14 DOI:10.1186/s42358-024-00400-z
Renan Rodrigues Neves Ribeiro do Nascimento, Caio Robledo D'Angioli Costa Quaio, Christine Hsiaoyun Chung, Dewton de Moraes Vasconcelos, Flavio Roberto Sztajnbok, Nilton Salles Rosa Neto, Sandro Félix Perazzio
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引用次数: 0

摘要

DNA 测序技术的进步,尤其是作为全外显子组测序(WES)和全基因组测序(WGS)基础的下一代测序(NGS)技术的进步,深刻地改变了免疫介导的风湿病诊断。最近,成本的大幅降低促进了这些诊断工具的普及,扩大了分子诊断的能力,使风湿病学追求精准医疗成为可能。了解遗传学的基本原理和基因变异分类的多样性是风湿病学的一个重要里程碑。然而,尽管DNA测序平台的可用性不断提高,但仍有大量自身炎症性疾病(AID)、神经肌肉疾病、遗传性胶原病和单基因骨病尚未得到解决,而意义不确定的变异体(VUS)对未来几十年解决这些尚未满足的需求构成了严峻的挑战。本文旨在概述全面基因检测在医学领域的临床适应症和解释,探讨相关的复杂性和影响。
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Principles of clinical genetics for rheumatologists: clinical indications and interpretation of broad-based genetic testing.

Advances in DNA sequencing technologies, especially next-generation sequencing (NGS), which is the basis for whole-exome sequencing (WES) and whole-genome sequencing (WGS), have profoundly transformed immune-mediated rheumatic disease diagnosis. Recently, substantial cost reductions have facilitated access to these diagnostic tools, expanded the capacity of molecular diagnostics and enabled the pursuit of precision medicine in rheumatology. Understanding the fundamental principles of genetics and diversity in genetic variant classification is a crucial milestone in rheumatology. However, despite the growing availability of DNA sequencing platforms, a significant number of autoinflammatory diseases (AIDs), neuromuscular disorders, hereditary collagen diseases, and monogenic bone diseases remain unsolved, and variants of uncertain significance (VUS) pose a formidable challenge to addressing these unmet needs in the coming decades. This article aims to provide an overview of the clinical indications and interpretation of comprehensive genetic testing in the medical field, addressing the related complexities and implications.

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来源期刊
Advances in Rheumatology
Advances in Rheumatology Medicine-Rheumatology
CiteScore
4.00
自引率
4.30%
发文量
41
审稿时长
53 weeks
期刊介绍: Formerly named Revista Brasileira de Reumatologia, the journal is celebrating its 60th year of publication. Advances in Rheumatology is an international, open access journal publishing pre-clinical, translational and clinical studies on all aspects of paediatric and adult rheumatic diseases, including degenerative, inflammatory and autoimmune conditions. The journal is the official publication of the Brazilian Society of Rheumatology and welcomes original research (including systematic reviews and meta-analyses), literature reviews, guidelines and letters arising from published material.
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