Copy number variation and human genome maps.
Maps of human genome copy number variation (CNV) are maturing into useful resources for complex disease genetics. Four new studies increase the resolution of CNV maps and seek to locate human phenotypic variation on these maps.
McCarroll
Steven A
SA
Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA. mccarroll@genetics.med.harvard.edu
D001483:Base Sequence; D002874:Chromosome Mapping; D044127:Epigenesis, Genetic; D018628:Gene Dosage; D014644:Genetic Variation; D016678:Genome; D015894:Genome, Human; D023281:Genomics; D006801:Humans; D015810:Linkage Disequilibrium; D008969:Molecular Sequence Data; D009154:Mutation; D009693:Nucleic Acid Hybridization; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide