A detailed analysis of data from 185 human genomes sequenced in the course of the 1000 Genomes Project, by scientists at the European Molecular Biology Laboratory (EMBL) in Heidelberg, Germany, in collaboration with researchers at the Wellcome Trust Sanger Institute in Cambridge, UK, as well as the University of Washington and Harvard Medical School, both in the USA, has identified the genetic sequence of an unprecedented 28 000 structural variants (SVs) – large portions of the human genome which differ from one person to another. The work, published today in Nature, could help find the genetic causes of some diseases and also begins to explain why certain parts of the human genome change more than others.
Mills et al. Mapping copy number variation by population-scale genome sequencing. Nature, 3 February 2011. DOI:10.1038/nature09708.
Mapping copy number variation by population-scale genome sequencing