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

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 p...

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Veröffentlicht in:	Bioinformatics 2019-11, Vol.35 (21), p.4405-4407
Hauptverfasser:	Monger, Steven, Troup, Michael, Ip, Eddie, Dunwoodie, Sally L, Giannoulatou, Eleni
Format:	Artikel
Sprache:	eng
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