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Genome informatics deals with informatics tools used in molecular biology, and it is an important scientific discipline that emerged in the postgenomic era from developments in the field of human genomics.
Advances in the understanding of the genetic etiology of human disorders, coupled with advances in technology, have led to the identification of numerous genomic variants.
Genetic or mutation databases are referred to as online repositories of genomic variants, mainly described for one or more genes or specifically for a population or ethnic group, aiming to facilitate diagnosis at the DNA level and to correlate genomic variants with specific phenotypic patterns and clinical features.