Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine

Need AC, Goldstein DB. Next generation disparities in human genomics: concerns and remedies. Trends Genet. 2009;25:489–94.

Bustamante CD, Burchard EG, De la Vega FM. Genomics for the world. Nature. 2011;475:163–5.

Bustamante CD, Fledel-Alon A, Williamson S, Nielsen R, Hubisz MT, Glanowski S, Tanenbaum DM, White TJ, Sninsky JJ, Hernandez RD, et al. Natural selection on protein-coding genes in the human genome. Nature. 2005;437:1153–7.

Kimura M. The Neutral Theory of Molecular Evolution. 1st ed. Cambridge: Cambridge University Press, 1983. Cambridge Books Online. http://dx.doi.org/10.1017/CBO9780511623486 .

Carmi S, Hui KY, Kochav E, Liu X, Xue J, Grady F, Guha S, Upadhyay K, Ben-Avraham D, Mukherjee S, et al. Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins. Nat Commun. 2014;5:4835.

Gravel S, Henn BM, Gutenkunst RN, Indap AR, Marth GT, Clark AG, Yu F, Gibbs RA, Genomes P, Bustamante CD. Demographic history and rare allele sharing among human populations. Proc Natl Acad Sci U S A. 2011;108:11983–8.

Lek M, Karczewski K, Minikel E, Samocha K, Banks E, Fennell T, O'Donnell-Luria A, Ware J, Hill A, Cummings B, et al. Analysis of protein-coding genetic variation in 60,706 humans. bioRxiv. 2015. http://dx.doi.org/10.1101/030338 .

ExAC: Exome Aggregation Consortium. http://exac.broadinstitute.org/ . Accessed July 2015.

Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, Reich D. Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet. 2006;38:904–9.

Goldstein DB, Allen A, Keebler J, Margulies EH, Petrou S, Petrovski S, Sunyaev S. Sequencing studies in human genetics: design and interpretation. Nat Rev Genet. 2013;14:460–70.