Abstract
Alterations in the genetic content of a cell are the underlying cause of many human diseases, including cancers. We have developed a method, called digital karyotyping, that provides quantitative analysis of DNA copy number at high resolution. This approach involves the isolation and enumeration of short sequence tags from specific genomic loci. Analysis of human cancer cells by using this method identified gross chromosomal changes as well as amplifications and deletions, including regions not previously known to be altered. Foreign DNA sequences not present in the normal human genome could also be readily identified. Digital karyotyping provides a broadly applicable means for systematic detection of DNA copy number changes on a genomic scale.
MeSH Terms
Analog-Digital Conversion
Biotinylation
Chromosome Mapping
Chromosomes, Human/genetics
Colorectal Neoplasms/genetics
Computer Simulation
DNA Restriction Enzymes
DNA, Neoplasm/genetics
DNA, Viral/analysis,genetics
Gene Dosage
Genetic Markers
Herpesvirus 4, Human/genetics
Humans
Karyotyping/methods
Microspheres
Monte Carlo Method
Sensitivity and Specificity
Streptavidin
Templates, Genetic
Tumor Cells, Cultured
Chemicals
DNA, Neoplasm
DNA, Viral
Genetic Markers
Streptavidin
DNA Restriction Enzymes
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Wang Tian-Li
The Howard Hughes Medical Institute and The Sidney Kimmel Comprehensive Cancer Center, The Johns Hopkins University Medical Institutions, Baltimore, MD 21231, USA.
Maierhofer Christine
Speicher Michael R
Lengauer Christoph
Vogelstein Bert
Kinzler Kenneth W
Velculescu Victor E
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