Allele-specific copy number analysis of tumor samples with aneuploidy and tumor heterogeneity

Genome Biology - Tập 12 - Trang 1-10 - 2011
Markus Rasmussen1, Magnus Sundström2, Hanna Göransson Kultima1, Johan Botling2, Patrick Micke2, Helgi Birgisson3, Bengt Glimelius4,5, Anders Isaksson1
1Science for Life Laboratory, Department of Medical Sciences, Uppsala University, Akademiska sjukhuset, Uppsala, Sweden
2Department of Immunology, Genetics and Pathology, Uppsala University, Rudbeck Laboratory, Uppsala, Sweden
3Department of Surgical Sciences, Uppsala University Akademiska sjukhuset, Uppsala, Sweden
4Department of Radiology, Oncology and Radiation Sciences, Uppsala University Akademiska sjukhuset, Uppsala, Sweden
5Department of Oncology and Pathology, Karolinska Institutet, Stockholm, Sweden

Tóm tắt

We describe a bioinformatic tool, Tumor Aberration Prediction Suite (TAPS), for the identification of allele-specific copy numbers in tumor samples using data from Affymetrix SNP arrays. It includes detailed visualization of genomic segment characteristics and iterative pattern recognition for copy number identification, and does not require patient-matched normal samples. TAPS can be used to identify chromosomal aberrations with high sensitivity even when the proportion of tumor cells is as low as 30%. Analysis of cancer samples indicates that TAPS is well suited to investigate samples with aneuploidy and tumor heterogeneity, which is commonly found in many types of solid tumors.

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