This application discloses a method, apparatus, device, and medium for predicting
pathogenic genes based on phenotypic fingerprinting. This method, executed by a computer, systematically integrates and quantifies the association information between genes and multi-dimensional phenotypes, constructing
gene-specific phenotypic fingerprints at the
population level. This allows for a more comprehensive capture of the complex effects of genes across different phenotypic dimensions. Furthermore, it calculates
gene-centered multi-phenotypic scores using
gene phenotypic fingerprints, transforming the multi-dimensional clinical phenotypic information of the target subject into gene-centered quantitative scores at the
object level. Utilizing the observed phenotypes of the target subject, it achieves two key outputs: assessment of the risk of carrying pathogenic variants and priority
ranking of candidate genes. This enables an objective and efficient evaluation of the fit between each
candidate gene and the actual
phenotype of the target subject. By introducing phenotypic fingerprinting and combining it with a multi-phenotypic scoring mechanism, this application significantly improves the efficiency and objectivity of identifying
pathogenic genes for complex diseases, possessing significant clinical application value.