MBASED: allele-specific expression detection in cancer tissues and cell lines

Genome Biol. 2014 Aug 7;15(8):405. doi: 10.1186/s13059-014-0405-3.

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.

MeSH terms

  • Alleles
  • Binomial Distribution
  • Computational Biology / methods*
  • Gene Expression Regulation, Neoplastic*
  • Humans
  • Neoplasms / genetics*
  • Polymorphism, Single Nucleotide
  • Sequence Analysis, RNA
  • Software
  • Tumor Cells, Cultured