Monger, Steven and Troup, Michael and Ip, Eddie and Dunwoodie, Sally L and Giannoulatou, Eleni and Birol, Inanc (2016) Spliceogen: an integrative, scalable tool for the discovery of splice-altering variants. Bioinformatics. ISSN 1367-4803
Full text not available from this repository.Abstract
MOTIVATION:
In silico prediction tools are essential for identifying variants which create or disrupt cis splicing motifs. However, there are limited options for genome-scale discovery of splice-altering variants.
RESULTS:
We have developed Spliceogen, a highly scalable pipeline integrating predictions from some of the individually best performing models for splice motif prediction: MaxEntScan, GeneSplicer, ESRseq and Branchpointer.
AVAILABILITY:
Spliceogen is available as a command line tool which accepts VCF/BED inputs and handles both single nucleotide variants (SNVs) and indels (https://github.com/VCCRI/Spliceogen). SNV databases with prediction scores are also available, covering all possible SNVs at all genomic positions within all Gencode-annotated multi-exon transcripts (https://github.com/VCCRI/Spliceogen/tree/master/database).
SUPPLEMENTARY INFORMATION:
Supplementary data are available at Bioinformatics online.
| Item Type: | Article |
|---|---|
| Subjects: | R Medicine > R Medicine (General) |
| Depositing User: | Repository Administrator |
| Date Deposited: | 27 May 2019 22:53 |
| Last Modified: | 27 May 2019 22:53 |
| URI: | https://eprints.victorchang.edu.au/id/eprint/838 |
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