Ameur A, Wetterbom A, Feuk L, Gyllensten U
Genome Biol. 11 (3) R34 [2010-03-17; online 2010-03-17]
We have developed a new strategy for de novo prediction of splice junctions in short-read RNA-seq data, suitable for detection of novel splicing events and chimeric transcripts. When tested on mouse RNA-seq data, >31,000 splice events were predicted, of which 88% bridged between two regions separated by <or=100 kb, and 74% connected two exons of the same RefSeq gene. Our method also reports genomic rearrangements such as insertions and deletions.
NGI Uppsala (Uppsala Genome Center)
National Genomics Infrastructure