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deFuse: An Algorithm for Gene Fusion Discovery in Tumor RNA-Seq Data

Figure 1

The deFuse gene fusion discovery method.

a) Discordant alignments are clustered based on the likelihood that those alignments were produced by reads spanning the same fusion boundary. Ambiguous alignments are resolved by selecting the most likely set of fusion events, and the most likely assignment of paired end reads to those events, and the remaining alignments are discarded. b) Paired end reads with an alignment for which one end aligns near the approximate fusion boundary are mined for split alignments of the other end of the read. c) The predicted fusion boundary is used to calculate the fragment lengths for each spanning paired end read. These fragment lengths are tested for the hypothesis that they were drawn at random from the fragment length distribution.

Figure 1