References

Whole-Genome Sequencing of People

Levy S, Sutton G, Ng PC, Feuk L, Halpern AL, et al. (2007)
The diploid genome sequence of an individual human.
PLoS Biol 5: 254.

Wheeler DA, Srinivasan M, Egholm M, Shen Y, Chen L, et al. (2008)
The complete genome of an individual by massively parallel DNA sequencing.
Nature 452: 872–876.

Bentley DR, Balasubramanian S, Swerdlow HP, Smith GP, Milton J, et al. (2008)
Accurate whole human genome sequencing using reversible terminator chemistry.
Nature 456: 53–59.

Tucker T, Marra M, Friedman JM (2009)
Massively parallel sequencing: The next big thing in genetic medicine.
Am J Hum Genet 85: 142–154.

Genome-Wide Association Studies (GWAS)

Altshuler D, Daly MJ, Lander ES (2008)
Genetic mapping in human disease.
Science 322: 881–888.

Pearson TA, Manolio TA (2008)
How to interpret a genome-wide association study.
JAMA 299: 1335–1344.

Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, et al. (2009)
Finding the missing heritability of complex diseases.
Nature 461: 747–753.

Translating Genome Sequence Information

Hodge AE, Altman RB, Klein TE (2007)
The PharmGKB: integration,aggregation, and annotation of pharmacogenomic data and knowledge.
Clin Pharmacol Ther 81: 21–24.

Ashley EA, Butte AJ, Wheeler MT, Chen R, Klein TE, et al. (2010)
Clinical assessment incorporating a personal genome.
Lancet 375: 1525–1535.

Ormond KE, Wheeler MT, Hudgins L, Klein TE, Butte AJ, et al. (2010)
Challenges in the clinical application of whole-genome sequencing.
Lancet 375: 1749–1751.

McBride CM, Koehly LM, Sanderson SC, Kaphingst KA. (2010)
The behavioral response to personalized genetic information: will genetic risk profiles motivate individuals and families to choose more healthful behaviors?
Annu Rev Public Health 31:89-103.

 
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