Related Experiment Video
Updated: Mar 14, 2026

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Genes, Exomes, Genomes, Copy Number: What is Their Future in Pediatric Renal Disease
Matthew G Sampson1, Harald Jüppner2
1Division 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.
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.
Related Concept Videos
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Pharmacokinetics in Pediatric Patients: Drug Excretion
Genome Copying Errors
Next-generation Sequencing
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
Principles of Pharmacogenetics: Types of Genetic Variants
Karyotyping

