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Segmentation-based detection of allelic imbalance and loss-of-heterozygosity in cancer cells using whole genome SNP arrays.


ABSTRACT: We present a strategy for detection of loss-of-heterozygosity and allelic imbalance in cancer cells from whole genome single nucleotide polymorphism genotyping data. Using a dilution series of a tumor cell line mixed with its paired normal cell line and data generated on Affymetrix and Illumina platforms, including paired tumor-normal samples and tumors characterized by fluorescent in situ hybridization, we demonstrate a high sensitivity and specificity of the strategy for detecting both minute and gross allelic imbalances in heterogeneous tumor samples.

SUBMITTER: Staaf J 

PROVIDER: S-EPMC2592714 | biostudies-literature | 2008

REPOSITORIES: biostudies-literature

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Segmentation-based detection of allelic imbalance and loss-of-heterozygosity in cancer cells using whole genome SNP arrays.

Staaf Johan J   Lindgren David D   Vallon-Christersson Johan J   Isaksson Anders A   Göransson Hanna H   Juliusson Gunnar G   Rosenquist Richard R   Höglund Mattias M   Borg Ake A   Ringnér Markus M  

Genome biology 20080916 9


We present a strategy for detection of loss-of-heterozygosity and allelic imbalance in cancer cells from whole genome single nucleotide polymorphism genotyping data. Using a dilution series of a tumor cell line mixed with its paired normal cell line and data generated on Affymetrix and Illumina platforms, including paired tumor-normal samples and tumors characterized by fluorescent in situ hybridization, we demonstrate a high sensitivity and specificity of the strategy for detecting both minute  ...[more]

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