The Human Helix

It has been over a century since the term ‘‘genetics’’ was first used to describe the science of heredity, whose origins lie in the careful plant breeding experiments of Gregor Mendel. These experiments laid the groundwork for further insights upon which our understanding of genetics is based: the discovery of meiosis and the resulting chromosome theory of inheritance, the isolation of DNA and description of its double helical structure, and the one gene–one enzyme hypothesis. Of course, Mendelian simplicity belied true complexity, with phenomena such as pleiotropy, epistasis, and polygenicity making the science of genetics perhaps not a straightforward one but a powerful source of biological understanding all the same. Although founded in observations of pea plants andmicrobes, it was only a matter of time before the science of genetics reached inward to illuminate human biology. It is no surprise that the desire to understand our own genomes and our unique, individual or species-level phenotypes has driven an explosion of interest in human genetics and genomics. Driven by technological advances, both experimental and computational, and the eagerness of individuals to share and understand their personal genome sequences, we are at a tipping point. With the growing applications of genomic medicine in the clinic, the escalating forensic power of DNA, and the availability of millions of patients’ genomic data powering unprecedented insights into complex disease, human genetics is booming both in the lab and in society. In this special issue, we’re excited to feature pieces that chart the progress forward by exploring the foundational principles of genetic variation and networks; insights into our evolutionary history and the architecture of disease; and many of the key issues, social and scientific, the community is currently facing. We are honored to be a strong part of this community at Cell, through publishing powerful datasets, innovative methods, and breakthrough discoveries in genomic medicine while maintaining a sharp focus on the importance of data availability, ethical considerations, and transparent methodological reporting. We are committed not only to conveying the most innovative work in human genetics to the research community but also to educating and exciting the public, sharing the story of our species with the world.