From the archives (2004): Large-scale structural variation in the human genome

During the past 25 years, Nature Genetics has been lucky to publish many exciting papers, more than a few of which can be described as “landmark” papers—publications that have had a dramatic and long-lasting impact on a field. In 2004, the Journal published such a study by Stephen Scherer, Charles Lee and colleagues (Iafrate et al.) in which they reported 255 loci across the human genome containing large structural variants. In 2017, the idea that there exist large numbers of structural...