Predicting the impact of DNA sequence variants is important for sorting disease-associated variants (DVs) from neutral variants. Korean researchers at Pohang University of science and technology (POSTECH) report the development of a method to predict the impact of DVs. The study appears in the journal Nucleic Acids Research in June.
Current methods to predict the mutational impacts depend on evolutionary conservation at the mutation site, which is determined using homologous sequences and based on the assumption that variants at well-conserved sites have high impacts. However, many DVs at less-conserved but functionally important sites cannot be predicted by the current methods.