A wealth of discovery built on the Human Genome Project — by the numbers

Abstract

The 20th anniversary of the publication of the first draft of the human genome1,2 offers an opportunity to track how the project has empowered research into the genetic roots of human disease, changed drug discovery and helped to revise the idea of the gene itself. Here we distil these impacts and trends. We combined several data sets to quantify the different types of genetic element that have been discovered and that generated publications, and how the pattern of discovery and publishing has changed over the years. The results highlight how the Human Genome Project (HGP), with its comprehensive list of protein-coding genes, spurred a new era of elucidating the function of the non-coding portion of the genome and paved the way for therapeutic developments. Crucially, the results track the emergence of a systems-level view of biology alongside the conventional single-gene perspective, as researchers mapped the interactions between cellular building blocks.