结合全基因组关联研究和单细胞分析阐明肾脏疾病的机制:Henry Shavelle教授学位论文集

Jonathan Levinsohn, Shen Li, Eunji Ha, Katalin Susztak
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引用次数: 0

摘要

背景:肾脏疾病是一个重大的全球健康负担,迫切需要加深我们对其潜在机制的理解。摘要:本文综述了将全基因组关联研究(GWAS)和单细胞组学(包括转录组学)结合在肾脏疾病研究中的创新方法。我们首先详细介绍GWAS如何识别许多遗传风险因素,为疾病易感性提供有价值的见解。然后,我们探索了scRNA-seq的应用,强调了其揭示遗传变异如何影响细胞表型的能力。通过对近期研究的综合,我们阐明了这两种强大方法之间的协同作用,展示了它们在阐明肾脏疾病复杂病因学方面的潜力。此外,我们还讨论了这种综合方法如何为精确诊断和个性化治疗铺平道路。关键信息:本综述强调了GWAS和scRNA-seq结合在深入了解肾脏疾病的过程中的变革潜力。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Combing Genome-Wide Association Studies and Single-Cell Analysis to Elucidate the Mechanisms of Kidney Disease: Proceedings of the Henry Shavelle Professorhip
Background: Kidney diseases pose a significant global health burden, there is an urgent need to deepen our understanding of their underlying mechanisms. Summary: This review focuses on new innovative approaches that merge Genome-Wide Association Studies (GWAS) and single-cell omics (including transcriptomics) in kidney disease research. We begin by detailing how GWAS have identified numerous genetic risk factors, offering valuable insight into disease susceptibility. Then, we explore the application of scRNA-seq, highlighting its ability to unravel how genetic variants influence cellular phenotypes. Through a synthesis of recent studies, we illuminate the synergy between these two powerful methodologies, demonstrating their potential in elucidating the complex etiology of kidney diseases. Moreover, we discuss how this integrative approach could pave the way for precise diagnostics and personalized treatments. Key Message: This review underscores the transformative potential of combining GWAS and scRNA-seq in the journey towards a deeper understanding of kidney diseases.
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