Abstract：
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.
摘要：
DNA测序技术的进展，尤其是下一代测序（NGS），这是全外显子组测序（WES）和全基因组测序（WGS）的基础，深刻地改变了免疫介导的风湿性疾病诊断。最近,大幅降低成本促进了对这些诊断工具的使用，扩大了分子诊断的能力，并实现了对风湿病学精准医学的追求。了解遗传变异分类中遗传学和多样性的基本原理是风湿病学的重要里程碑。然而,尽管越来越多的DNA测序平台，大量的自身炎性疾病（AIDs），神经肌肉疾病，遗传性胶原病,单基因骨疾病仍未解决，和不确定意义（VUS）的变体对未来几十年解决这些未满足的需求构成了巨大的挑战。本文旨在对医学领域综合基因检测的临床适应证及解释,解决相关的复杂性和影响。
