Online Extras on Human Genetic Variation
Papers and Articles
Selected Research Papers
R. Saxena et al., "Genome-Wide Association Analysis Identifies Loci for Type 2 Diabetes and Triglyceride Levels," Science 316, 1331 (2007)
E. Zeggini et al., "Replication of Genome-Wide Association Signals in UK Samples Reveals Risk Loci for Type 2 Diabetes," Science 316, 1336 (2007)
L.J. Scott et al., "A Genome-Wide Association Study of Type 2 Diabetes in Finns Detects Multiple Susceptibility Variants," Science 316, 1341 (2007)
V. Steinthorsdottir et al., "A Variant in CDKAL1 Influences Insulin Response and Risk of Type 2 Diabetes," Nature Genet. 39, 770 (2007)
R. Sladek et al., "A Genome-Wide Association Study Identifies Novel Risk Loci for Type 2 Diabetes," Nature 445, 881 (2007)
J. Sebat et al., "Strong Association of De Novo Copy Number Mutations with Autism," Science 316, 445 (2007)
A.J. de Smith et al., "Array CGH Analysis of Copy Number Variation Identifies 1284 New Genes Variant in Healthy White Males: Implications for Association Studies of Complex Diseases," Hum. Mol. Genet. 16, 2783 (2007)
J.O. Korbel et al., "Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome," Science 318, 420 (2007)
K.K. Wong et al., "A Comprehensive Analysis of Common Copy-Number Variations in the Human Genome," Am. J. Hum. Genet. 80, 91 (2009)
G.H. Perry et al., "Diet and the Evolution of Human Amylase Gene Copy Number Variation," Nature Genet. 39, 1256 (2007)
C.M. Egan et al., "Recurrent DNA Copy Number Variation in the Laboratory Mouse," Nature Genet. 39, 1384 (2007)
The International HapMap Consortium, "A Second Generation Human Haplotype Map of Over 3.1 Million SNPs," Nature 449, 851 (2007)
B.E. Stranger et al., "Population Genomics of Human Gene Expression," Nature Genet. 39, 1217 (2007)
B.E. Stranger et al., "Relative Impact of Nucleotide and Copy Number Variation on Gene Expression Phenotypes," Science 315, 848 (2007)
The Wellcome Trust Case Control Consortium, "Genome-Wide Association Study of 14,000 Cases of Seven Common Diseases and 3,000 Shared Controls," Nature 447, 661 (2007)
J. Fellay et al., "A Whole-Genome Association Study of Major Determinants for Host Control of HIV-1," Science 317, 944 (2007)
C. Lalueza-Fox et al., "A Melanocortin 1 Receptor Allele Suggests Varying Pigmentation Among Neanderthals," Science 318, 1453 (2007)
J. Krause et al., "The Derived FOXP2 Variant of Modern Humans Was Shared with Neandertals," Current Biol. 17, 1908 (2007)
M.N. Weedon et al., "A Common Variant of HMGA2 is Associated with Adult and Childhood Height in the General Population," Nature Genet. 39, 1245 (2007)
P. Sulem et al., "Genetic Determinants of Hair, Eye and Skin Pigmentation in Europeans," Nature Genet. 39, 1443 (2007)
R. McPherson et al., "A Common Allele on Chromosome 9 Associated with Coronary Heart Disease," Science 316, 1488 (2007)
News, Reviews, and Perspectives
J. Couzin and J. Kaiser, "Closing the Net on Common Disease Genes," Science 316, 820 (2007)
J. Novembre et al., "Adaptive Drool in the Gene Pool," Nature Genet. 39, 1188 (2007)
S.A. McCarroll and D.M. Altshuler, "Copy-Number Variation and Association Studies of Human Disease," Nature Genet. 39, s37 (2007)
J. Cohen, "DNA Duplications and Deletions Help Determine Health," Science 317, 1315 (2007)
X. Estivill and L. Armengol, "Copy Number Variants and Common Disorders: Filling the Gaps and Exploring Complexity in Genome-Wide Association Studies," PLoS Genetics 3, e190 (2007)
Interesting Web Sites
Human Genetic Variation: An NIH Curriculum Supplement
A creative, inquiry-based instruction program, designed to promote active learning and stimulate student interest in medical topics.
International HapMap Project
A multi-country effort to identify and catalog genetic similarities and differences in human beings.
Database of Genotype and Phenotype (dbGaP)
Developed to archive and distribute the results of studies that have investigated the interaction of genotype and phenotype, including genome-wide association studies, medical sequencing, and molecular diagnostic assays.
Genetic Association Information Network (GAIN)
A public-private partnership that aims to understand the genetic factors influencing risk for complex diseases.
A web site for sharing information about the effects of DNA variations on traits and disease.
The Human Genome: Your Genes, Your Health, Your Future
A comprehensive resource on the human genome, its role in health and medicine, and the broader social impact of unravelling its mysteries; produced by the Wellcome Trust.