Variant identification in human periodontal ligament stem cells associated to proto-oncogenes: A review

An oncogene is a gene that has the potential to cause cancer. Dental caries and periodontitis cause enormous health care costs and morbidity, but their genetic basis remains largely unknown. Clinical laboratories implement a variety of measures to classify somatic and sequence variants identifies clinically relevant variants to facilitate implementation of precision medicine. We developed a semi-automated tool called Variant Interpretation for Periodontal Cancer (VIC) to speed up the interpretation process and minimize individual risk biases. VIC loads pre-annotated files and automatically classifies sequence variants based on multiple criteria, with the ability for users to include additional evidence to streamline interpretation for clinical implications evaluated the VIC using several publicly available databases and compared it to several forecasting programs. Although the VIC cannot replace human examiners, it will speed up the process of interpreting variants. VIC can also be adapted by clinical laboratories into their analytical pipelines to ease the tedious process of variant interpretation.