After variant calling, the interpretation of human genome data relies on the identification of relevant genetic variants through prior knowledge and inference of the impact of genetic variants on functional genomic elements. AI algorithms can improve the use of prior knowledge by informing phenotype-to-genotype mapping (described in the next section). Here, we describe both genome annotation and variant classification because many of the AI algorithms that are used to predict the presence of a functional element from primary DNA sequence data are also used to predict the impact of a genetic variation on those functional elements.
