title: Digital karyotyping.
abstract: Detection of copy number variation in the human genome is important for identifying naturally occurring copy number polymorphisms as well as alterations that underlie various human diseases, including cancer. Digital karyotyping uses short sequence tags derived from specific genomic loci to provide a quantitative and high-resolution view of copy number changes on a genome-wide scale. Genomic tags are obtained using a combination of enzymatic digests and isolation of short DNA sequences. Individual tags are linked into ditags, concatenated, cloned and sequenced. Tags are matched to reference genome sequences and digital enumeration of groups of neighboring tags provides quantitative copy number information along each chromosome. Digital karyotyping libraries can be generated in about a week, and library sequencing and data analysis require several additional weeks.
authors: The Ludwig Center for Cancer Genetics and Therapeutics, The Johns Hopkins Kimmel Cancer Center, Baltimore, Maryland 21231, USA.
authors: Rebecca J
authors: RJ
authors: Leary
authors: Jordan
authors: J
authors: Cummins
authors: Tian-Li
authors: TL
authors: Wang
authors: Victor E
authors: VE
authors: Velculescu
mesh_terms: D003001:Cloning, Molecular; D004247:DNA / Q000737:chemistry*; D018628:Gene Dosage; D015723:Gene Library; D023281:Genomics; D006801:Humans; D007621:Karyotyping / Q000379:methods*; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
chemical_list: D004247:DNA