Every individual carries hundreds of rare genetic variants, including some thought to have harmful consequences, suggest the latest findings from the 1000 Genomes Project.
The findings, published in November, provide data from 1092 genomes of apparently healthy individuals from 14 populations in Europe, east Asia, sub-Saharan Africa, and the Americas (The 1000 Genomes Project Consortium. Nature. 2012;491:56-65). The findings provide the most comprehensive catalog of human genetic variation to date—capturing an estimated 95% of human genetic variation—and provide comparative information for researchers studying the role of genetics in disease and clinicians using genomic technology to find a genetic cause for a medical condition.
Kuehn BM. 1000 Genomes Project Finds Substantial Genetic Variation Among Populations. JAMA. 2012;308(22):2322-2325. doi:10.1001/jama.2012.88674