Genomic Databases
Résumé
Genomic sequence data are revolutionizing biology, enabling genome-wide investigations into gene function and expression, and genomic organization. Use of human genomic data is expected to have huge impacts on pathology and the development of personalized therapies. Genome reference sequences for thousands of organisms are freely available from Internet-based genomic databases. Sequence data can be directly downloaded or searched via genome browsers, user-friendly software generating interactive graphical outputs of relevant chromosomal regions with rich annotations, including genes, epigenetic data, and sequence variants. This chapter provides an overview of the major genomic databases and genome browsers, describing various approaches for searching them, including using identifiers for genes and molecules, karyotype bands, chromosomal coordinates, sequences, and motifs. Software approaches for performing more complex genomic searches are described. Emphasis is placed on the human genome, including how information relating to genome plasticity, such as sequence and structural variants, can be visualized and retrieved.