The American Journal of Human Genetics · 2007 · 131 citations · 29 references
Life SciencesGeneticsMolecular GeneticsGenomicsHuman GeneticsMedical GeneticsCopy Number AlterationsCopy Number Variant AnalysisCopy Number VariantsCopy Number VariationGenetic DisordersNeurodevelopmental DisordersCopy Number PolymorphismCopy Number Variant DetectionCopy Number Variant Frequency AnalysisCopy Number Variant InterpretationCopy Number Variant PolymorphismGenome-wide Copy Number Variation AnalysisSingle Nucleotide Polymorphism Arrays
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Global variation in copy number in the human genome
Richard Redon, Shumpei Ishikawa, Karen Fitch et al. · Nature · 2006 · 4.4K citations · Full text
A common inversion under selection in Europeans
Hreinn Stefánsson, Agnar Helgason, Valgerður Steinthórsdóttir et al. · Nature Genetics · 2005 · 872 citations