Research Topic

The Correlation Between the Genotype and Phenotype in Genetic Diseases

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


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

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


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

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Submission Deadlines

01 December 2017 Manuscript
15 December 2017 Manuscript Extension

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

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Topic Editors

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Submission Deadlines

01 December 2017 Manuscript
15 December 2017 Manuscript Extension

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

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