The 1000 genomes project

Following the publication of the draft human genome sequence in 2001 (IHGSC 2001; Venter et al. 2001), human geneticists embarked on efforts to categorize genomic differences between individuals in a systematic fashion. Multiple studies were initiated with the aim of investigating human genetic variation (Pennisi 2007), most prominently the Human Genome Diversity Project (Jakobsson et al. 2008; Li et al. 2008; Cavalli-Sforza 2005) and the International HapMap Project (2005, 2007). Many of these studies used DNA microarrays to genotype common polymorphisms across individuals from a number of populations from around the world. However, since the conclusion of these projects, direct sequencing of many human genomes has become practical and cost effective through technological improvements in massively parallel short-read sequencing methods (Metzker 2010; Lander 2011). Whole-genome sequencing allows for the discovery of previously unknown polymorphisms, including de novo, rare, or length variations, as well as genotyping of known polymorphisms.