id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
10_1101-436634	Cotto, Kelsy C.	RegTools: Integrated analysis of genomic and transcriptomic data for the discovery of splicing variants in cancer	2021	48	.pdf	application/pdf	14993	1337	59	RegTools: Integrated analysis of genomic and transcriptomic data for the discovery of splicing variants in cancer somatic variants from genomic data with splice junctions from transcriptomic data to identify isoforms, we annotated them with the Variant Effect Predictor (VEP), SpliceAI, and GenotypeTissue Expression (GTEx) junction counts and compared our results to other tools that integrate tools, the unbiased nature of RegTools has allowed us to identify novel splice variants and identify potential cis-acting splice-relevant variants in tumors (www.regtools.org). To demonstrate the utility of RegTools in identifying potential splice-relevant variants from tumor transcriptome as described above and its associated variants based on splice junction region For our analysis, we annotated the pairs of associated variants and junctions identified by Pan-cancer analysis of 35 tumor types identifies somatic variants that alter canonical We also identify recurrent splice altering variants in genes not known to be cancer genes RegTools contains three sub-modules: "variants", "junctions", and "cis-splice-effects".	./cache/10_1101-436634.pdf	./txt/10_1101-436634.txt