Evaluating pathogenicity of sequence variants is a major challenge. Currently, several standards and guidelines have been recommended, and many in silico predictive algorithms are available. However, genes are distinct from each other in many aspects. The general guidelines or predictive tools may be fraught with difficulties in practical application for specific genes.
The Genetic Dependence and Pathogenicity (GD&P) Database aims to provide essential information for evaluating the pathogenic potential of each gene and the pathogenicity of variants from an individual. In this database, special attention has been paid to information of Genetic Dependence, a concept that we used to describe the extent to which a normal life depends on the functioning of a gene.
We evaluated the pathogenic potential of each gene based on comprehensive information from gene expression, clinical and functional profiles, providing a basis for evaluating pathogenicity of variants. In practice, a key question is whether a detected variant is responsible for the phenotype of a patient. Therefore, clinical information of patient should be an important consideration. This database provides pathogenic profiles of each gene, including phenotype specificity, pathogenic genotype/funotype, and severity correlation. These profiles could be used to compare with the patient’s phenotype and to interpret the causality of variants.
Established: Sep 2018