The invention discloses a pathogenic
gene prediction method and device based on phenotypic fingerprints, equipment and a medium. The method is executed by a computer, systematic integration and quantification are carried out on associated information between genes and phenotypes of multiple dimensions,
phenotype fingerprints with specific genes are constructed on the
group level, and complex effects of the genes on different
phenotype dimensions can be captured more comprehensively; a multi-
phenotype score value taking genes as the center is calculated through
gene phenotype fingerprints, that is, multi-dimensional
clinical phenotype information of a target object is converted into quantitative scores taking the genes as the center on the
object level, and two types of key output of pathogenic variation carrying
risk assessment and
candidate gene priority
ranking are achieved through observation phenotypes of the target object; and the integrating degree of each
candidate gene and the actual phenotype of the target object can be objectively and efficiently evaluated. According to the method, phenotype fingerprints are introduced, a multi-phenotype scoring mechanism is combined, the efficiency and objectivity of
complex disease pathogenic
gene recognition are remarkably improved, and the method has important clinical application value.