Allele-specific gene expression, ASE, is an important aspect of gene regulation. Scientists at Genentech Inc have 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. They 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.
Availability – the development version of MBASED is available at: http://bioconductor.jp/packages/3.0/bioc/html/MBASED.html