The embodiment of the present application provides a kind of variation interpretation acquisition method and device, suitable for obtaining the variation interpretation of the detected
genetic variation to the case of being detected, comprising: obtaining the detected
genetic variation of the case of being detected;Based on the detected
genetic variation, obtain the variation combination corresponding to the detected genetic variation including the detected genetic variation, the
gene corresponding to the detected genetic variation, the
disease corresponding to the
gene and the genetic mode corresponding to the
disease;According to the detected genetic variation in the variation combination, the
gene, the
disease and the genetic mode, at least two of variation
pathogenicity, disease similarity and mendelian inheritance consistency are acquired;According to the variation
pathogenicity, the disease similarity and the mendelian inheritance consistency three at least two acquired, the variation interpretation of the variation combination is acquired.This application embodiment provides the variation interpretation acquisition method can improve variation sequencing result accuracy and the efficiency of etiological variation analysis.