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

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作者
Markus Rasmussen
Magnus Sundström
Hanna Göransson Kultima
Johan Botling
Patrick Micke
Helgi Birgisson
Bengt Glimelius
Anders Isaksson
机构
[1] Uppsala University,Science for Life Laboratory, Department of Medical Sciences
[2] Akademiska sjukhuset,Department of Immunology, Genetics and Pathology
[3] Uppsala University,Department of Surgical Sciences
[4] Rudbeck Laboratory,Department of Radiology, Oncology and Radiation Sciences
[5] Uppsala University Akademiska sjukhuset,Department of Oncology and Pathology
[6] Uppsala University Akademiska sjukhuset,undefined
[7] Karolinska Institutet,undefined
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关键词
Genomic Aberration; Copy Number Aberration; Copy Number Analysis; Circular Binary Segmentation; Tumor Cell Heterogeneity;
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摘要
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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