Spliceogen: An integrative, scalable tool for the discovery of splice-altering variants.

BIOINFORMATICS(2019)

引用 8|浏览18
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摘要
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.
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