Abstract: Provided are a method and device for creating a gene mutation dictionary, and a method and device for compressing genomic data using the gene mutation dictionary. The method for creating a gene mutation dictionary includes: obtaining genome sequence data of a plurality of individuals of a species and reference genome data of the species; aligning genome sequence data of each individual to the reference genome data to obtain a mutation result of the genome sequence data of each individual relative to the reference genome data; partitioning a genome of the species into a plurality of unit regions of biological significance; and generating a plurality of mutant patterns of the individuals in each unit region by statistically analyzing mutant status for each unit region based on the mutation result, and numbering the mutant patterns, to obtain the gene mutation dictionary.