Genome-wide association studies (GWAS) have identified hundreds of loci associated with kidney-related traits such as glomerular filtration rate, albuminuria, hypertension, electrolyte and metabolite levels. However, these impressive, large-scale mapping approaches have not always translated into an improved understanding of disease or development of novel therapeutics. GWAS have several important limitations. Nearly all disease-associated risk loci are located in the non-coding region of the genome and therefore, their target genes, affected cell types and regulatory mechanisms remain unknown. Genome-scale approaches can be used to identify associations between DNA sequence variants and changes in gene expression (quantified through bulk and single-cell methods), gene regulation and other molecular quantitative trait studies, such as chromatin accessibility, DNA methylation, protein expression and metabolite levels. Data obtained through these approaches, used in combination with robust computational methods, can deliver robust mechanistic inferences for translational exploitation. Understanding the genetic basis of common kidney diseases means having a comprehensive picture of the genes that have a causal role in disease development and progression, of the cells, tissues and organs in which these genes act to affect the disease, of the cellular pathways and mechanisms that drive disease, and of potential targets for disease prevention, detection and therapy.

全基因组关联研究（GWAS）已鉴定出数百个与肾脏相关性状相关的基因座，例如肾小球滤过率，蛋白尿，高血压，电解质和代谢物水平。然而，这些令人印象深刻的大规模制图方法并不总是转化为对疾病的了解或新疗法的发展。GWAS有几个重要的限制。几乎所有与疾病相关的风险基因座都位于基因组的非编码区，因此，它们的靶基因，受影响的细胞类型和调控机制仍然未知。基因组规模的方法可用于鉴定DNA序列变体与基因表达变化之间的关联（通过本体和单细胞方法量化），基因调控和其他分子定量性状研究，例如染色质可及性，DNA甲基化，蛋白质表达和代谢产物水平。通过这些方法获得的数据与鲁棒的计算方法结合使用，可以为翻译开发提供鲁棒的机械推论。了解常见肾脏疾病的遗传基础意味着全面了解在疾病发展和进程中具有因果作用的基因，这些基因在其中影响疾病的细胞，组织和器官，细胞途径和机制。导致疾病，以及潜在的疾病预防，检测和治疗目标。可以为翻译开发提供可靠的机制推断。了解常见肾脏疾病的遗传基础意味着全面了解在疾病发展和进程中具有因果作用的基因，这些基因在其中影响疾病的细胞，组织和器官，细胞途径和机制。导致疾病，以及潜在的疾病预防，检测和治疗目标。可以为翻译开发提供可靠的机制推断。了解常见肾脏疾病的遗传基础意味着全面了解在疾病发展和进程中具有因果作用的基因，这些基因在其中影响疾病的细胞，组织和器官，细胞途径和机制。导致疾病，以及潜在的疾病预防，检测和治疗目标。