Mauno Vihinen, Professor of bioinformatics, Institute of Medical Technology, University of Tampere, Finland. Founding member and board member of HGVS.
My research interest has been for over 15 years in understanding mechanisms of disease-related variations at different levels (DNA/RNA/protein, structure/function/interaction/etc). For this purpose my group has performed a number of analyses of mutation effects, mainly on primary immunodeficiencies and some cancers. For these studies, and as a service for the worldwide community, we do maintain over 120 locus-specific mutation databases with over 8000 patient cases. In addition to primary immunodeficiencies, we have registries also for protein kinase domain and Src homology 2 (Src2) domain mutations. We have applied and developed bioinformatic tools for prediction which variants are pathogenic and which are benign. For the disease-associdated variations we further apply predictions to find out likely mechanism behind the disease. Our latest achievements in variation field are the Variation Ontology (VariO) and development of an integrated prediction tool called Pathogenic-Or-Not -Pipeline available at https://bioinf.uta.fi.
