Please review our most recent research, which has been submitted for publication. This research introduces an online tool designed to predict the pathogenicity of mutations in the KCNQ2 channel.
BCB is delighted to announce our latest project – an online tool grounded in machine learning designed to predict the pathogenicity of mutations in ion channels. In the link provided below, we introduce a versatile methodology capable of precisely classifying missense variants in KCNQ2, offering valuable insights for clinical counseling and aiding in determining the severity of the variant. The MLe-KCNQ2 ensemble model, accessible at https://channels.bcb.eus/, effectively categorizes pathogenic mutations as either benign or severe, boasting specificity and sensitivity values surpassing 0.95. We have plans to unveil many more ion channels in the near future, so stay tuned for updates. Explore the tool here: https://channels.bcb.eus/