Digital karyotyping

Tian Li Wang; Christine Maierhofer; Michael R. Speicher; Christoph Lengauer; Bert Vogelstein; Kenneth W. Kinzler; Victor E. Velculescu

doi:10.1073/pnas.202610899

Digital karyotyping

Tian Li Wang, Christine Maierhofer, Michael R. Speicher, Christoph Lengauer, Bert Vogelstein, Kenneth W. Kinzler, Victor E. Velculescu

School of Medicine

Research output: Contribution to journal › Article › peer-review

200 Scopus citations

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.

Original language	English (US)
Pages (from-to)	16156-16161
Number of pages	6
Journal	Proceedings of the National Academy of Sciences of the United States of America
Volume	99
Issue number	25
DOIs	https://doi.org/10.1073/pnas.202610899
State	Published - Dec 10 2002

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AU - Wang, Tian Li

AU - Maierhofer, Christine

AU - Speicher, Michael R.

AU - Lengauer, Christoph

AU - Vogelstein, Bert

AU - Kinzler, Kenneth W.

AU - Velculescu, Victor E.

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AB - 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.

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Digital karyotyping

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