Initial sequencing and analysis of the human genome

Eric S. Lander, Lauren Linton, Bruce W. Birren, +120

Nature

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

Paul R. Burton, David Clayton, Lon R. Cardon, +32

Nature

Genome-wide Association StudyDisease SusceptibilityDisease EtiologyGlobal HealthGenetic Epidemiology +7

A haplotype map of the human genome

Nature

A second generation human haplotype map of over 3.1 million SNPs

Liuda Ziaugra, Chibuzor Nkwodimmah, Missy Dixon, +4

Nature

Haplotype DeterminationGenotype-phenotype AssociationMedicineGeneticsHuman Polymorphism +5

Global variation in copy number in the human genome

Richard Redon, Shumpei Ishikawa, Karen Fitch, +39

Nature

MedicineGeneticsGenome AnalysisGenetic VariationGenomics +3

A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms

Nature

Haplotype DeterminationHuman VariationMedicineGeneticsEvolutionary Biology +7

Origins and functional impact of copy number variation in the human genome

Donald F. Conrad, Dalila Pinto, Richard Redon, +24

Nature

Genome StudyMedicineGeneticsEvolutionary BiologyGenome Structure +7

SLC24A5, a Putative Cation Exchanger, Affects Pigmentation in Zebrafish and Humans

Rebecca L. Lamason, Manzoor-Ali P.K. Mohideen, Jason R. Mest, +22

Science

GeneticsMolecular BiologyLighter Skin PigmentationOptogeneticsMolecular Ecology +16

Integrated detection and population-genetic analysis of SNPs and copy number variation

Steven A. McCarroll, Finny G. Kuruvilla, Joshua M. Korn, +23

Nature Genetics

Genetic AnalysisAllelic VariantHaplotype DeterminationMedicineGenetics +9

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

Joshua M. Korn, Finny G. Kuruvilla, Steven A. McCarroll, +13

Nature Genetics

Genome-wide Association StudyAssociation AnalysisAllelic VariantGenotype-phenotype AssociationGenetics +7