Development of a Comprehensive Gene-/Disease-Specific Analysis and Knowledgebase to Enhance the Efficiency and Accuracy of Sequence Variant Interpretation and Clinical Reporting

With advances in high-throughput genomic sequencing technologies, clinical molecular laboratories are evaluating a rapidly increasing number of novel sequence variants in genes associated with genetic disorders. The evidence and knowledge of gene-disease relationships and variant pathogenicity of the disease-causing genes is also accumulating swiftly. To enhance the efficiency and accuracy of sequence variant interpretation and clinical reporting, a comprehensive gene-/disease-specific analysis and knowledgebase is being developed. Here, the progress on developing the framework of this knowledgebase and its utility will be discussed.