Genetics in Medicine · 2011 · 956 citations · 17 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsPediatric GeneticsCopy Number AlterationsCopy Number Variant AnalysisCopy Number VariantsCopy Number VariationVariant ClassificationVariant InterpretationClinical Copy Number Variant ReportingClinical Variant ReportingCopy Number Variant InterpretationCopy Number Variant NomenclaturePostnatal Copy Number Variant DiagnosisPrenatal Copy Number Variant DiagnosisVariant Interpretation In Prenatal Genetics
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Detection of large-scale variation in the human genome
A. John Iafrate, Lars Feuk, Miguel N. Rivera et al. · Nature Genetics · 2004 · 2.9K citations
Diet and the evolution of human amylase gene copy number variation
George H. Perry, Nathaniel J. Dominy, Katrina G. Claw et al. · Nature Genetics · 2007 · 1.5K citations