Clinical Integration of Genome Diagnostics for Congenital Anomalies of the Kidney and Urinary Tract

Multiomics approach to define CAKUT etiology. Integration of data on genetic variation, gene expression and regulation, and environmental factors with clinical information on phenotype, imaging, and lab values will help to shape the genomic landscape of CAKUT and determine which DNA variants are involved in disease etiology and prognosis. AD, autosomal dominant; AR, autosomal recessive; CAKUT, congenital anomalies of the kidney and urinary tract; NICU, neonatal intensive care unit; lncRNA, long noncoding RNA; miRNA, micro-RNA; SNP, single nucleotide polymorphism; XL, X-linked.