====== General ====== * Heritability in the genomics era — concepts and misconceptions. Peter M. Visscher, William G. Hill & Naomi R. Wray doi:10.1038/nrg2322 http://www.nature.com/nrg/journal/v9/n4/pdf/nrg2322.pdf * Clarke GM, Anderson CA, Pettersson FH, Cardon LR, Morris AP, Zondervan KT. Basic statistical analysis in genetic case-control studies. Nat Protoc. 2011 Feb;6(2):121-33 https://www.ncbi.nlm.nih.gov/pubmed/21293453 * Genetic Mapping in Human Disease David Altshuler,1,2,3,4,5* Mark J. Daly,1,2,5* Eric S. Lander1,6,7,8* https://www.ncbi.nlm.nih.gov/pubmed/18988837 * The continuing value of twin studies in the omics era. http://www.nature.com/nrg/journal/v13/n9/full/nrg3243.html ====== Association: ====== * Risch and Merikangas Science 1996 The future of genetic studies of complex disease http://www.ncbi.nlm.nih.gov/pubmed/8801636 * Sham et al. AJHG 2000 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1378020/pdf/10762547.pdf * Medland SE, Neale, M.C.. (2009). An Integrated Phenomic Approach to Multivariate Allelic Association. European Journal of Human Genetics.Aug. 26. [http://www.vipbg.vcu.edu/vipbg/Articles/EJHG-2009-0826_IntPhenAppMultiAA.pdf] ====== GWAS ====== * Anderson et al. Nature Protocols 2010 http://www.ncbi.nlm.nih.gov/pubmed/21085122 * Neale and Purcell AJMG-B 2008 http://www.ncbi.nlm.nih.gov/pubmed/18500721 * Purcell et al. 2007 AJHG http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1950838/?rendertype=abstract * [also plink website: http://pngu.mgh.harvard.edu/~purcell/plink/] * Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. https://www.ncbi.nlm.nih.gov/pubmed/17554300 * Genome-wide association studies for complex traits: consensus, uncertainty and challenges. https://www.ncbi.nlm.nih.gov/pubmed?term=PMID%3A%2018398418 * overview of what is GWAS Manolio TA. Genomewide association studies and assessment of the risk of disease. N Engl J Med. 2010 Jul 8;363(2):166-76. http://www.nejm.org/doi/pdf/10.1056/NEJMra0905980 * Psychiatric GWAS Consortium Coordinating Committee, Cichon S, Craddock N, Daly M, Faraone SV, Gejman PV, Kelsoe J, Lehner T, Levinson DF, Moran A, Sklar P, Sullivan PF. Genomewide association studies: history, rationale, and prospects for psychiatric disorders. Am J Psychiatry. 2009 May;166(5):540-56. Epub 2009 Apr 1. http://ajp.psychiatryonline.org/cgi/reprint/166/5/540 ====== Sequencing: ====== * DePristo et al. 2011 Nat. Genet. http://www.ncbi.nlm.nih.gov/pubmed/21478889 * 1KG 2011 Nature Genetics http://www.ncbi.nlm.nih.gov/pubmed/23128226 * Lander ES. Initial impact of the sequencing of the human genome. Nature. 2011 Feb 10;470(7333):187-97. http://www.nature.com/nature/journal/v470/n7333/pdf/nature09792.pdf * Patterns and rates of exonic de novo mutations in autism spectrum disorders http://www.nature.com/nature/journal/v485/n7397/full/nature11011.html