Article
Inherited glomerular diseases in the gilded age of genomic advancements.
Pediatric nephrology (Berlin, Germany) - 1 Jun 2020
Gulati Ashima, Dahl Neera, Tufro Alda
Abstract excerpt
The synchronized advent of high-throughput next-generation sequencing technology and knowledge of the human genome has rendered exponential contributions to our understanding of the pathophysiology of glomerular kidney diseases. A genetic diagnosis can now be made or confirmed in about two-thirds of the suspected inherited glomerular diseases. Next-generation sequencing is adept at identifying single nucleotide...
Topics
- Adolescent
- Age Factors
- Branchio-Oto-Renal Syndrome
- Child
- Female
- High-Throughput Nucleotide Sequencing
- Humans
- Infant
- Kidney Failure, Chronic
- Male
- Middle Aged
- Mutation
- Pedigree
- Polymorphism, Single Nucleotide
- Renal Insufficiency, Chronic
- Exome Sequencing