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Next-generation sequencing, specifically exome sequencing and genome sequencing, has transformed the diagnostic landscape by enabling an unbiased, simultaneous analysis of all disease-associated genes. These modalities enhance diagnostic yields by identifying structural variants including copy number variants and non-coding variants often missed by conventional panels. Furthermore, they allow for the discovery of novel disease genes through periodic reanalysis. Despite these advancements, a significant diagnostic gap persists due to the limitations of short-read sequencing in complex genomic regions and the difficulty of interpreting variants of uncertain significance. To address these challenges, integrating long-read sequencing to resolve complex genomic regions and implementing systematic reanalysis protocols are recommended. This review provides a comprehensive comparison of diagnostic yields across testing modalities and discusses the future of genomic profiling in pediatric kidney diseases.<\/jats:p>","DOI":"10.3339\/ckd.25.040","type":"journal-article","created":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T09:46:17Z","timestamp":1782207977000},"page":"77-85","update-policy":"https:\/\/doi.org\/10.3339\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["The utility and advantages of exome and genome sequencing in pediatric kidney disease 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