Haplotype and isoform specific expression estimation using multi-mapping RNA-seq reads

Genome Biol. 2011;12(2):R13. doi: 10.1186/gb-2011-12-2-r13. Epub 2011 Feb 10.

Abstract

We present a novel pipeline and methodology for simultaneously estimating isoform expression and allelic imbalance in diploid organisms using RNA-seq data. We achieve this by modeling the expression of haplotype-specific isoforms. If unknown, the two parental isoform sequences can be individually reconstructed. A new statistical method, MMSEQ, deconvolves the mapping of reads to multiple transcripts (isoforms or haplotype-specific isoforms). Our software can take into account non-uniform read generation and works with paired-end reads.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Algorithms
  • Allelic Imbalance
  • Alternative Splicing
  • Animals
  • Computational Biology / methods*
  • Gene Expression Profiling / methods*
  • Haplotypes
  • Humans
  • Mice
  • Models, Statistical
  • RNA, Messenger / analysis
  • RNA, Messenger / genetics*
  • Sequence Analysis, RNA / methods*
  • Software
  • Transcriptome

Substances

  • RNA, Messenger