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

Summary, in English

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.

• Author: Johan Staaf; David Lindgren; Johan Vallon-Christersson; Anders Isaksson; Hanna Goransson; Gunnar Juliusson; Richard Rosenquist; Mattias Höglund; Åke Borg; Markus Ringnér
• Department/s: Breastcancer-genetics; Division of Clinical Genetics; Stem Cell Center
• Publishing year: 2008
• Language: English
• Publication/Series: Genome Biology
• Volume: 9
• Issue: 9
• Links: http://dx.doi.org/10.1186/gb-2008-9-9-r136
• Document type: Journal article
• Publisher: BioMed Central (BMC)
• Topic: Cancer and Oncology; Medical Genetics; Hematology
• Status: Published
• ISBN/ISSN/Other: ISSN: 1474-7596