Strategies for dealing with genetic variants uncertain significance
Genetic variants can be classified into pathogenic variants,probably pathogenic variants,benign variants,probably benign variants,and variants uncertain significance(VUS)according to American College of Medical Genetics and Genomics(ACGM).VUS is very common in genetic testing and analysis.It brings problems to clinical genetic etiology analysis.Whether it is gene locus variation or other sequence variation,VUS can be analyzed from the accuracy of the variation locus,the inheritance pattern,and the frequency of point mutations in the population.It can also be analyzed from more families with the same disease and the same gene variation,amino acid changes,gene regulation,bioinformatics,protein function,cell and animal phenotypes carrying mutated genes whenever you encounter VUS.Our AI Genetic Analysis System can improve the efficiency and accuracy of genetic analysis.
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