About this Research Topic
Genetic diseases are a major cause of mortality and disability for human beings, especially for children. In the past decade, sequencing technology has evolved rapidly with the advent of high-throughput next-generation sequencing. By virtue of increased complexity of the sequencing technology, this shift in genetic testing has been accompanied by new challenges in sequence interpretation. For diseased individuals, it is not easy to establish the relationship between the genetic mutations and phenotypes from patients with monogenic disease, though this relationship is most important for the patients, for the doctor and for further genetic counseling.
In particular, this Topic will bring attention to research related to Alport syndrome, Barterr syndrome, Dent disease, Renal tubular acidosis and Steroid resistant nephrotic syndrome.
We would welcome manuscripts which address the following:
1. Reports for identifying the link between the phenotypes of patients and the genotypes of genetic testing.
2. The principle for sequence interpretation.
3. The validation of the effects of genetic mutations on patients.
Keywords: Alport syndrome, Barterr syndrome, Dent disease, Renal Tubular Acidosis, Steroid Resistant Nephrotic syndrome, Genetic diseases
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