State-of-the-art fusion-finder algorithms sensitivity and specificity.

摘要: Background. Gene fusions arising from chromosomal translocations have been implicated in cancer. RNA-seq has the potential to discover such rearrangements generating functional proteins (chimera/fusion). Recently, many methods for chimeras detection published. However, specificity and sensitivity of those tools were not extensively investigated a comparative way. Results. We tested eight fusion-detection (FusionHunter, FusionMap, FusionFinder, MapSplice, deFuse, Bellerophontes, ChimeraScan, TopHat-fusion) detect fusion events using synthetic real datasets encompassing chimeras. The comparison analysis run only on data could generate misleading results since we found no counterpart dataset. Furthermore, most report very high number false positive In particular, sensitive tool, reports large positives that able significantly reduce by devising applying two filters remove supported junction-spanning reads or intronic regions. Conclusions. discordant obtained suggest may fully catch complexity experiment. Moreover, are still limited specificity; thus, there is space further improvement fusion-finder algorithms.