178
B. F. Voight
health. If the next 10 years of biological discoveries met with only a fraction of the
success as has been achieved from genetic discovery, a tremendous benefit on the
health of human society is very likely to be achieved.
Acknowledgements The author is indebted to Mark J. Daly for the motivating idea and most of
the data contributing to Fig. 7.1.
References
1000 Genomes Project Consortium, Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin
RM, Handsaker RE, Kang HM, Marth GT, McVean GA (2012) An integrated map of genetic
variation from 1,092 human genomes. Nature 491(7422):56–65
Anderson CA, Soranzo N, Zeggini E, Barrett JC (2011) Synthetic associations are unlikely to
account for many common disease genome-wide association signals. PLoS Biol 9:e1000580
Bauer DE, Kamran SC, Lessard S, Xu J, Fujiwara Y, Lin C, Shao Z, Canver MC, Smith EC,
Pinello L, Sabo PJ, Vierstra J, Voit RA, Yuan GC, Porteus MH, Stamatoyannopoulos JA, Lettre
G, Orkin SH (2013) An erythroid enhancer of BCL11A subject to genetic variation determines
fetal hemoglobin level. Science 342:253–257
Beer NL, Tribble ND, McCulloch LJ, Roos C, Johnson PR, Orho-Melander M, Gloyn AL (2009)
The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels
exerts its effect through increased glucokinase activity in liver. Hum Mol Genet 18:4081–4088
Bodmer W, Bonilla C (2008) Common and rare variants in multifactorial susceptibility to common
diseases. Nat Genet 40:695–701
Browning BL, Browning SR (2009) A unified approach to genotype imputation and haplotypephase inference for large data sets of trios and unrelated individuals. Am J Hum Genet 84:210–
223
Bustamante CD, Burchard EG, De la Vega FM (2011) Genomics for the world. Nature 475:163–
165
Campbell CD, Ogburn EL, Lunetta KL, Lyon HN, Freedman ML, Groop LC, Altshuler D, Ardlie
KG, Hirschhorn JN (2005) Demonstrating stratification in a European American population.
Nat Genet 37:868–872
CARDIoGRAMplusC4D Consortium (2013) Large-scale association analysis identifies new risk
loci for coronary artery disease. Nat Genet 45:25–33
Cirulli ET, Goldstein DB (2010) Uncovering the roles of rare variants in common disease through
whole-genome sequencing. Nat Rev Genet 11:415–425
Cortes A, Brown MA (2011) Promise and pitfalls of the immunochip. Arthritis Res Ther 13(1):101
Cotsapas C, Voight BF, Rossin E, Lage K, Neale BM, Wallace C, Abecasis GR, Barrett JC, Behrens
T, Cho J et al (2011) Pervasive sharing of genetic effects in autoimmune disease. PLoS Genet
7:e1002254
Cross-Disorder Group of the Psychiatric Genomics Consortium (2013) Genetic relationship
between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet 45:984–994
de Bakker PI, Ferreira MA, Jia X, Neale BM, Raychaudhuri S, Voight BF (2008) Practical
aspects of imputation-driven meta-analysis of genome-wide association studies. Hum Mol
Genet 17:122–128
Devlin B, Roeder K (1999) Genomic control for association studies. Biometrics 55:997–1004
Di X, Matsuzaki H, Webster TA, Hubbell E, Liu G, Dong S, Bartell D, Huang J, Chiles R, Yang G,
Shen MM, Kulp D, Kennedy GC, Mei R, Jones KW, Cawley S (2005) Dynamic model based
algorithms for screening and genotyping over 100 K SNPs on oligonucleotide microarrays.
Bioinformatics 21:1958–1963
B. F. Voight
health. If the next 10 years of biological discoveries met with only a fraction of the
success as has been achieved from genetic discovery, a tremendous benefit on the
health of human society is very likely to be achieved.
Acknowledgements The author is indebted to Mark J. Daly for the motivating idea and most of
the data contributing to Fig. 7.1.
References
1000 Genomes Project Consortium, Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin
RM, Handsaker RE, Kang HM, Marth GT, McVean GA (2012) An integrated map of genetic
variation from 1,092 human genomes. Nature 491(7422):56–65
Anderson CA, Soranzo N, Zeggini E, Barrett JC (2011) Synthetic associations are unlikely to
account for many common disease genome-wide association signals. PLoS Biol 9:e1000580
Bauer DE, Kamran SC, Lessard S, Xu J, Fujiwara Y, Lin C, Shao Z, Canver MC, Smith EC,
Pinello L, Sabo PJ, Vierstra J, Voit RA, Yuan GC, Porteus MH, Stamatoyannopoulos JA, Lettre
G, Orkin SH (2013) An erythroid enhancer of BCL11A subject to genetic variation determines
fetal hemoglobin level. Science 342:253–257
Beer NL, Tribble ND, McCulloch LJ, Roos C, Johnson PR, Orho-Melander M, Gloyn AL (2009)
The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels
exerts its effect through increased glucokinase activity in liver. Hum Mol Genet 18:4081–4088
Bodmer W, Bonilla C (2008) Common and rare variants in multifactorial susceptibility to common
diseases. Nat Genet 40:695–701
Browning BL, Browning SR (2009) A unified approach to genotype imputation and haplotypephase inference for large data sets of trios and unrelated individuals. Am J Hum Genet 84:210–
223
Bustamante CD, Burchard EG, De la Vega FM (2011) Genomics for the world. Nature 475:163–
165
Campbell CD, Ogburn EL, Lunetta KL, Lyon HN, Freedman ML, Groop LC, Altshuler D, Ardlie
KG, Hirschhorn JN (2005) Demonstrating stratification in a European American population.
Nat Genet 37:868–872
CARDIoGRAMplusC4D Consortium (2013) Large-scale association analysis identifies new risk
loci for coronary artery disease. Nat Genet 45:25–33
Cirulli ET, Goldstein DB (2010) Uncovering the roles of rare variants in common disease through
whole-genome sequencing. Nat Rev Genet 11:415–425
Cortes A, Brown MA (2011) Promise and pitfalls of the immunochip. Arthritis Res Ther 13(1):101
Cotsapas C, Voight BF, Rossin E, Lage K, Neale BM, Wallace C, Abecasis GR, Barrett JC, Behrens
T, Cho J et al (2011) Pervasive sharing of genetic effects in autoimmune disease. PLoS Genet
7:e1002254
Cross-Disorder Group of the Psychiatric Genomics Consortium (2013) Genetic relationship
between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet 45:984–994
de Bakker PI, Ferreira MA, Jia X, Neale BM, Raychaudhuri S, Voight BF (2008) Practical
aspects of imputation-driven meta-analysis of genome-wide association studies. Hum Mol
Genet 17:122–128
Devlin B, Roeder K (1999) Genomic control for association studies. Biometrics 55:997–1004
Di X, Matsuzaki H, Webster TA, Hubbell E, Liu G, Dong S, Bartell D, Huang J, Chiles R, Yang G,
Shen MM, Kulp D, Kennedy GC, Mei R, Jones KW, Cawley S (2005) Dynamic model based
algorithms for screening and genotyping over 100 K SNPs on oligonucleotide microarrays.
Bioinformatics 21:1958–1963