Data access comittee for Institut Curie

Mr Julien Guérin
julien.guerin@curie.fr

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Dataset ID	Description	Technology	Samples
EGAD00001004398	Hotspot mutations in the spliceosome gene SF3B1 are reported in 20% of uveal melanomas. SF3B1 is involved in 3'-splice site (3'ss) recognition during RNA splicing; however, the molecular mechanisms of its mutation have remained unclear. Here we show, using RNA-Seq analyses of uveal melanoma, that the SF3B1 R625/K666 mutation results in deregulated splicing at a subset of junctions, mostly by the use of alternative 3'ss.	Illumina HiSeq 2500	76