Spliceogen: An integrative, scalable tool for the discovery of splice-altering variants
2019
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.
- Correction
- Source
- Cite
- Save
- Machine Reading By IdeaReader
12
References
2
Citations
NaN
KQI