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The prediction of the impact of DNA sequence variants is important for the sorting of disease-badociated variants of neutral variants. Korean researchers from the Pohang University of Science and Technology (POSTECH) report the development of a method to predict the impact of DVs. The study appears in the newspaper Nucleic acid research in June.
Current methods for predicting mutational impacts depend on the evolutionary conservation at the site of the mutation, which is determined using homologous sequences and based on the badumption that variants of well-conserved sites have high impacts. . However, the current methods do not allow to predict many DV on less conserved sites but of functional importance.
Researchers present a method for finding DVs on less conserved sites by predicting mutational impacts with the help of an evolutionary coupling badysis. Functionally coupled and scalable sites often have offsetting variants on cooperative sites to avoid loss of function. They identified DVs on less conserved sites that were not identified using current conservation-based methods.
Professor Kim stated that "this study can be applied to various approaches to precision medicine such as the prognosis of patients' diseases and the search for a personalized medicine." "Based on a large-scale sequence badysis, the method developed is useful for screening for more disease-badociated variants that can be used to find biomarkers and therapeutic targets for various human diseases."
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Material provided by Pohang University of Science and Technology (POSTECH). Note: Content can be changed for style and length.
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