From genes to genomics to proteomics

Abstract

In human genetics many initial research initiatives focused on single genes or were performed on a gene-by-gene basis. However, recent findings, especially those about the extensive transcriptional activity of the genome, changed the concept of what a gene is supposed to be. In addition, novel high-throughput approaches and numerous innovative technologies, such as gene and expression microarrays, mass spectrometry, new sequencing methods, and many more, now enable us to address complex diseases and to unravel underlying involved regulatory patterns. These high-throughput assays resulted in a shift from studying Mendelian disorders towards mul-tifactorial diseases, although mono genic diseases still provide a unique opportunity for elucidating gene function. This chapter describes current concepts about the defi-nition of a gene, possible consequences of mutations and the latest developments in the areas of genomics, transcriptomics, and proteomics and their potential to add to a better understanding of factors contributing to phenotypic features.