title: Genes, Exomes, Genomes, Copy Number: What is Their Future in Pediatric Renal Disease.
abstract: The influence of genetic variation on the pathogenesis of pediatric kidney disease extends from the earliest stages of kidney development in utero to conditions arising throughout a child's life. Major advances in genomic technologies, computing power, and bioinformatics analyses have resulted in the accelerated discovery of novel genes and risk loci associated with both inherited and sporadic forms of pediatric kidney disease. In this review, we will highlight studies over the past year that used diverse approaches to discover novel genes and loci associated with pediatric renal disease. We will also discuss reports that investigate the association with disease of previously discovered risk variants in novel populations, different phenotypes, or in model systems. Finally, we will discuss how we believe genomic inquiry will evolve in pediatric kidney disease in the future. Together, these studies illustrate that almost every child with a kidney condition could participate in some form of genomic investigation.
authors.affiliation: Division of Pediatric Nephrology, Department of Pediatrics and Communicable Disease, University of Michigan School of Medicine, West Medical Center Drive, A510D MSRB1, Ann Arbor, MI 48109, USA.
authors.forename: Matthew G
authors.initials: MG
authors.lastname: Sampson
authors.affiliation: Pediatric Nephrology and Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, 50 Blossom Street, Thier 10, Boston, MA 02114, USA.
authors.forename: Harald
authors.initials: H
authors.lastname: Jüppner
keywords: CNV; Chronic kidney disease; Exome; Family studies; GWAS; Genes; Genome; Genomics; Nephrotic syndrome; Next-generation sequencing; Pediatric nephrology; Phenotyping; Single nucleotide variant; Transcriptome