Genetic and Phenotypic Correlation: Gene-Disease Validation

Dear Colleagues,

With the increasing use of genomic sequencing technology, a significant number of genes contributing to Mendelian disorders can be rapidly identified. However, the clinical utility of this technology bottlenecks at variant interpretation. Substantial gaps in the knowledge base necessitate more information on gene disease validation, especially genetic or experimental evidence on variants of known genes, which can clarify the correlation between genotype and phenotype.

The “one-gene-one-disease” paradigm has been challenged by multiple disease traits caused by one gene or one locus in one gene. At times, face lumping and the splitting conundrum are necessary to evaluate the validity of a gene–disease relationship. However, variable expressivity and the incomplete penetrance of recurrent variants make genetic diagnosis challenging. More genetic and experimental evidence could enhance our understanding of the role of genetic etiology in diseases; filling this research gap constitutes the genetic basis for improving precision medicine.

This Special Issue welcomes a variety of research papers, including systematic reviews of the genotype–phenotype correlation, detailed studies on genetic and experimental evidence of gene alteration, and novel insights into the genetic mechanism of rare genetic diseases, involving both the modifier factor discovery and expanded clinical phenotype of genetic variants.

Dr. Yu An
Dr. Tianyun Wang
Dr. Hua Sun
Dr. Junyu Zhang
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.