Nature · 2009 · 2.1K citations · 43 references
Life SciencesGeneticsMolecular GeneticsGenome OrganizationGenomicsHuman GeneticsCopy Number AlterationsCopy Number Variant AnalysisCopy Number VariantsCopy Number VariationGene DuplicationGenomic VariationCopy Number Variant DetectionCopy Number Variant FormationCopy Number Variant InterpretationCopy Number Variant MechanismsCopy Number Variant PhenotypesCopy Number Variation HeterogeneityGenome-wide Copy Number Variation Analysis
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Finishing the euchromatic sequence 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