Chapter 20 - Genomic Databases: Emerging Tools for Molecular Diagnostics

Abstract

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. These dictate the organization of this knowledge and these alterations in structured repositories that could eventually be useful not only for molecular diagnosis but also for clinicians and researchers. 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. In this chapter we will summarize the key features of the main types of genetic databases that are frequently used in molecular diagnostics, namely locus-specific and national/ethnic genetic databases. In particular, the main activities relating to these genetic database types will be highlighted to describe the existing and emerging database types in this domain and emphasize their potential applications in modern medical genetics. We will also critically discuss and touch upon the key elements that are still missing and holding back the field.