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Whole Exome Sequencing and Methylation Profiling of Uveal Melanoma

ABSTRACT:

Uveal melanoma (UM) is the most common primary cancer of the eye and frequently leads to metastatic death. Metastatic risk can be stratified into low, intermediate and high based on the presence of mutually exclusive mutations in EIF1AX, SF3B1 and BAP1, respectively. The purpose of this study was to comprehensively profile the genetic aberrations in a set of primary uveal melanomas using whole exome sequencing, as well as DNA methylation profiling of selected samples, to improve understanding of its pathogenesis.

PROVIDER: phs001421 | dbGaP |

SECONDARY ACCESSION(S): PRJNA397243PRJNA397242

REPOSITORIES: dbGaP

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Dataset's files

Source:

			Action	DRS
	GapExchange_phs001421.v1.p1.xml	Xml
	dbGaPEx2.1.5.xsd	Other
	Study_Report.phs001421.UvealMelanoma_WES_Methylation.v1.p1.MULTI.pdf	Pdf
	manifest_phs001421.UvealMelanoma_WES_Methylation.v1.p1.c1.HMB-PUB.pdf	Pdf
	datadict_v2.xsl	Other

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