Nature · 2010 · 3.2K citations · 23 references
Life SciencesGeneticsMolecular GeneticsHuman EvolutionHuman GeneticsPopulation GeneticsGenetic DiversityGenetic VariationGenomic VariationHuman VariationPopulation GenomicsPopulation VariationCommon Genetic VariantsPopulation Genetic DiversityPopulation Genetic VariationRare Genetic VariantsWithin-population Variation
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Initial sequencing and analysis of the human genome
Eric S. Lander, Lauren Linton, Bruce W. Birren et al. · Nature · 2001 · 24.6K citations · Full text
A haplotype map of the human genome
A second generation human haplotype map of over 3.1 million SNPs
Sarah S. Murray, Todd A. Johnson · Nature · 2007 · 4.6K citations · Full text
Global variation in copy number in the human genome
Richard Redon, Shumpei Ishikawa, Karen Fitch et al. · Nature · 2006 · 4.4K citations · Full text