We present SeqOthello, an ultra-fast and memory-efficient indexing structure to support arbitrary sequence query against large collections of RNA-seq experiments. It takes SeqOthello only 5 min and 19.1 GB memory to conduct a global survey of 11,658 fusion events against 10,113 TCGA Pan-Cancer RNA-seq datasets. The query recovers 92.7% of tier-1 fusions curated by TCGA Fusion Gene Database and reveals 270 novel occurrences, all of which are present as tumor-specific. By providing a reference-free, alignment-free, and parameter-free sequence search system, SeqOthello will enable large-scale integrative studies using sequence-level data, an undertaking not previously practicable for many individual labs.
|State||Published - Oct 19 2018|
Bibliographical noteFunding Information:
This work was supported by US National Science Foundation [award grant number 1054631 to J.L., CNS-1717948 and CNS-1750704 to C.Q.] and National Institutes of Health [grant number P30CA177558 and 1UL1TR001998-01 to J.L.] The Seven Bridges Cancer Genomics Cloud  has been funded in whole or in part with Federal funds from the National Cancer Institute, National Institutes of Health, Contract No. HHSN261201400008C and ID/IQ Agreement No. 17X146 under Contract No. HHSN261201500003I.
© 2018 The Author(s).
- Gene fusion
ASJC Scopus subject areas
- Ecology, Evolution, Behavior and Systematics
- Cell Biology