Diagnostic genetic analysis using mutation-disease association with patient-specific association assessment

摘要

Assess the relevance of the analytical gene mutations observed in the genetic data of the diagnostic object associated with phenotypic characteristics by clinical analysis. A set of polymorphisms functionally associated with the analyzed genetic mutation is identified. For the set of polymorphisms, the foreground distribution of mutations observed in the genetic data to be diagnosed is calculated. For the set of polymorphisms, the background distribution observed in the genetic data subject to clinical analysis is calculated. A comparison metric is calculated that compares the foreground and background distributions. Based on the comparison metric, the relevance of the analytical mutation to the diagnostic object is quantified. A high similarity between the foreground distribution and the background distribution corresponds to a high relevance.