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A selection of recommended internet resources aimed at ELSI practitioners, students, and any interested members of the public to help understand the science behind the latest health care developments

 

  • Glossaries
  • Educational Resources
  • Open Access Publications
  • Subscriber Access Only Publications

Glossaries

Talking Glossary of Genetic Terms
National Human Genome Research Institute
GeneReviews Glossary
GeneTests

Educational resources:

DNA from the beginning :An Animated Primer on the Basics of DNA, Genes and Hereditary 
Cold Spring Harbour Lab
Learn Genetics: Genetic Science Learning Centre 
University of Utah
Personal Genome Project Study Guide
Harvard University

Useful Resources for Understanding Key Scientific Developments in Genomics

Open Access Articles

Hall A, Hallowell N, Zimmern R. Managing incidental and pertinent findings from WGS in the 100,000 Genome Project. April 2013, report from the PHG Foundation

Janssens ACJW, Duijn CMv. Genome-based prediction of common diseases: advances and prospects. Human Molecular Genetics. 2008;17(Review 2):R166-R172.

Tian C, Gregersen PK, Seldin MF. Accounting for ancestry: population substructure and genome-wide association studies. Human Molecular Genetics. October 15, 2008 2008;17(R2):R143-150.

McCarroll SA. Extending genome-wide association studies to copy-number variation. Human Molecular Genetics. October 15, 2008 2008:ddn282.

McCarthy MI, Hirschhorn JN. Genome-wide association studies: past, present and future. Human Molecular Genetics. October 15, 2008 2008;17(2):ddn298.

McCarthy MI, Hirschhorn JN. Genome-wide association studies: potential next steps on a genetic journey. Human Molecular Genetics. 2008;17(Review 2):R156-R165.

Attia J, Ioannidis JPA, Thakkinstian A, et al. How to use an article about genetic association B: Are the results of the study valid? Journal of the American Medical Association. 2009;301(2):191-197.

Attia J, Ioannidis JPA, Thakkinstian A, et al. How to use an article about genetic association A: Background concepts. Journal of the American Medical Association. 2009;301(1):74-81.

Subscriber Access Only Articles

Phillips PC. Epistasis - the essential role of gene interactions in the structure and evolution of genetic systems. Nature Reviews Genetics. 2008;9:855-867.

Visscher PM, Hill WG, Wray NR. Heritability in the genomics era - concepts and misconceptions. Nature Reviews Genetics. 2008;9:255- 266.

Hurst LD. Genetics and the understanding of selection. Nature Reviews Genetics. 2009;10(2):83-93.

McCarthy MI, Abecasis GR, Cardon LR, et al. Genome-wide assocation studies for complex traits: consensus, uncertainties, and challenge. Nature Reviews Genetics. 2008;9:356-369.

Cordell HJ. Detecting gene-gene interactions that underlie human diseases. Nat Rev Genet. 2009;10(6):392-404.

Stephens M, Balding DJ. Bayesian statistical methods for genetic association studies. Nat Rev Genet. 2009;10(10):681-690.

Plomin R, Haworth CMA, Davis OSP. Common disorders are quantitative traits. Nat Rev Genet. 2009;10(12):872-878.

Ioannidis JPA, Thomas G, Daly MJ. Validating, augmenting and refining genome-wide association signals. Nature Reviews Genetics. 2009;10:318-329.

Orr HA. Fitness and its role in evolutionary genetics. Nat Rev Genet. 2009;10(8):531-539.

Holsinger KE, Weir BS. Genetics in geographically structured populations: defining, estimating and interpreting FST. Nat Rev Genet. 2009;10(9):639-650.

Charlesworth D, Willis JH. The genetics of inbreeding depression. Nat Rev Genet. 2009;10(11):783-796.

Charlesworth B. Fundamental concepts in genetics: Effective population size and patterns of molecular evolution and variation. Nat Rev Genet. 2009;10(3):195-205.

Burton PR, Tobin MD, Hopper JL. Key concepts in genetic epidemiology. The Lancet. 2005;360(September 10 2005):941-951.

Teare MD, Barrett JH. Genetic linkage studies. The Lancet. 2005;366(September 17 2005):1036-1044.

Cordell H, Clayton DG. Genetic association studies. The Lancet. 2005;366(September 24 2005):1121-1131.

Palmer LJ, Cardon LR. Shaking the tree: mapping complex disease genes with linkage disequilibrium. The Lancet. 2005;366(October 1 2005):1223-1234.

Hattersley AT, McCarthy MI. What makes a good genetic association study? The Lancet. 2005;366(October 8 2005):1315- 1323.

Hopper JL, Bishop DT, Easton DF. Population-based family studies in genetic epidemiology. The Lancet. 2005;366(9494):1397-1406.

Smith GD, Ebrahim S, Lewis S, Hansell AL, Palmer LJ, Burton PR. Genetic epidemiology and public health: hope, hype, and future prospects. The Lancet. 2005;366(October 22):1484-1498.