References for Specific Topics
Abecasis GR, Auton A, Brooks LD, et al. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012;491:56–65.
Bainbridge MN, Wiszniewski W, Murdock DR, et al. Whole-genome sequencing for optimized patient management. Science Transl Med. 2011;3:87re3.
Bush WS, Moore JH. Genome-wide association studies. PLoS Computational Biol. 2012;8:e1002822.
Denny JC, Bastarache L, Ritchie MD, et al. Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association data. Nat Biotechnol. 2013;31:1102–1110.
Fritsche LG, Chen W, Schu M, et al. Seven new loci associated with age-related macular degeneration. Nat Genet. 2013;17:1783–1786.
Gonzaga-Jauregui C, Lupski JR, Gibbs RA. Human genome sequencing in health and disease. Annu Rev Med. 2012;63:35–61.
Hindorff LA, MacArthur J, Morales J, : A catalog of published genome-wide association studies. Available at: www.genome.gov/gwastudies. Accessed February 1, 2015.
International HapMap Consortium. A second generation human haplotype map of over 3.1 million SNPs. Nature. 2007;449:851–861.
Kircher M, Witten DM, Jain P, et al. A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet. 2014;46:310–315.
Koboldt DC, Steinberg KM, Larson DE, et al. The next-generation sequencing revolution and its impact on genomics. Cell. 2013;155:27–38.
Manolio TA. Bringing genome-wide association findings into clinical use. Nat Rev Genet. 2014;14:549–558.
Matise TC, Chen F, Chen W, et al. A second-generation combined linkage-physical map of the human genome. Genome Res. 2007;17:1783–1786.
Roach JC, Glusman G, Smit AF, et al. Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science. 2010;328:636–639.
Robinson PC, Brown MA. Genetics of ankylosing spondylitis. Mol Immunol. 2014;57:2–11.
SEARCH Collaborative Group. SLCO1B1 variants and statin-induced myopathy—a genomewide study. N Engl J Med. 2008;359:789–799.
Stahl EA, Wegmann D, Trynka G, et al. Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis. Nature Genet. 2012;44:4383–4391.
Yang Y, Muzny DM, Reid JG, et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med. 2013;369:1502–1511.
