MBASED: allele-specific expression detection in cancer tissues and cell lines |
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Authors: | Oleg Mayba Houston N Gilbert Jinfeng Liu Peter M Haverty Suchit Jhunjhunwala Zhaoshi Jiang Colin Watanabe Zemin Zhang |
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Institution: | 1. Department of Bioinformatics and Computational Biology, Genentech Inc, South San Francisco, CA, 94080, USA 2. Department of Biostatistics, Genentech Inc, South San Francisco, CA, 94080, USA
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Abstract: | Allele-specific gene expression, ASE, is an important aspect of gene regulation. We developed a novel method MBASED, meta-analysis based allele-specific expression detection for ASE detection using RNA-seq data that aggregates information across multiple single nucleotide variation loci to obtain a gene-level measure of ASE, even when prior phasing information is unavailable. MBASED is capable of one-sample and two-sample analyses and performs well in simulations. We applied MBASED to a panel of cancer cell lines and paired tumor-normal tissue samples, and observed extensive ASE in cancer, but not normal, samples, mainly driven by genomic copy number alterations. |
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