Genetic and Phenotypic Correlation: Gene–Disease Validation Series II

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. Yiran Guo
Dr. Junyu Zhang
Guest Editors

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• developmental disorder
• neurodevelopment
• birth defect
• genetic disorder
• gene discovery
• next-generation sequencing (NGS)
• whole-exome/genome sequencing
• molecular biology
• animal modeling
• genotype
• phenotype
• gene curation
• pathogenesis
• modifier
• variant interpretation