(en) Pauline C. Ng , Samuel Levy, Jiaqi Huang, Timothy B. Stockwell, Brian P. Walenz, Kelvin Li, Nelson Axelrod, Dana A. Busam, Robert L. Strausberg, J. Craig Venter, « Genetic Variation in an Individual Human Exome », PLoS Genetics, vol. 4, no 8, (DOI10.1371/journal.pgen.1000160).