Editorial: Computational and experimental protein variant interpretation in the era of precision medicine

Most traits of the human phenotype depend on the combination of various genetic factors with environmental influences, and a major challenge is the understanding of the relationship among genetic and phenotype variations (Casadio et al., 2011). In the last years, both advancements in human genome sequencing technologies and the creation of databases collecting information on human variations at the gene and protein levels have hugely enhanced the investigations on the role of these variations in determining health and disease (Austin-Tse et al., 2022). At the same time, the increasing amount of data generated by these resources are requiring new accurate and reliable computer-aided tools to predict phenotype–genotype associations (Brandes et al., 2023; Cheng et al., 2023). Efficient and powerful analytical methods are necessary for the discovery of unknown etiologies, which is important for rare diseases (Greene et al., 2023). Licata et al. highlighted the most relevant online resources and computational tools for single-nucleotide variant interpretation that can enhance the diagnosis, clinical management, and development of treatments for rare disorders.