Bioinformatics and genomic databases

High-throughput, low-cost sequencing technologies have begun to yield new insights into biology and medicine. New data enable the interrogation of the molecular biology of disease from DNA to RNA to protein, charting the central dogma. This chapter reviews some of the key advances and resources in the application of bioinformatics to understanding, and ultimately diagnosing and treating, diseases of the nervous system. Array genotyping, exome sequencing, and whole-genome sequencing, in both disease and healthy populations, have enabled the interpretation of new genetic data. Profiling of epigenetic markers, such as histone modifications, has added to our understanding of the regulatory machinery of the genome. Downstream, mRNA, and protein expression data from published experiments and high-throughput studies enable complex analyses of gene function across many experimental conditions and tissues. Further delineation of molecular mechanism arises from the concept of genes working together in pathways or networks, reflecting direct protein interactions and regulatory relationships. The rapidly moving field of bioinformatics has made significant contributions to neurology in these early days; continued advances promise to transform medicine from basic science to clinical practice, as more genomics data are generated, combined, and analyzed in the future.