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Segmental Duplications and Copy-Number Variation in the Human Genome

The American Journal of Human Genetics · 2005 · Vol. 77(1) · pp. 78–88

Andrew J. Sharp(University of Washington)Devin P. Locke(University of Washington)Sean McGrath(University of Washington)Ze Cheng(University of Washington)Jeffrey A. Bailey(Case Western Reserve University)Rhea U. Vallente(Washington State University)L.M. Pertz(Case Western Reserve University)Royden A. Clark(Case Western Reserve University)Stuart Schwartz(Case Western Reserve University)Rick Segraves(University of California, San Francisco)Vanessa V. Oseroff(University of California, San Francisco)Donna G. Albertson(University of California, San Francisco)Daniel Pinkel(University of California, San Francisco)Evan E. Eichler✉(University of Washington)

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Genomic variations and chromosomal abnormalities Chromosomal and Genetic Variations Genomics and Phylogenetic StudiesSegmental duplicationGene duplicationCopy-number variationBiologyStructural variationGenomeHuman genomeGeneticsComparative genomic hybridizationGenome evolution

MeSH terms

HumansNucleic Acid HybridizationPolymorphism, GeneticRecombination, GeneticRepetitive Sequences, Nucleic AcidGenetic VariationReproducibility of ResultsGenome, HumanGene DosageOligonucleotide Array Sequence AnalysisChromosomes, Artificial, Bacterial