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Whole Exome Sequencing of Uveal Melanoma

ABSTRACT:

Uveal melanoma is a rare form of melanoma that occurs in the eye and has no effective treatment once metastatic. To further characterize the genomic events driving uveal melanoma, whole exome sequencing was performed on 61 primary tumors derived from enucleations, 3 liver metasases, and paired normal DNA. Recurrent somatic genetic alterations including point mutations, small insertions and deletions, as well as copy number variations were identified. In addition, RNA sequencing of uveal melanoma cell lines expressing shRNAs was performed from total RNA as well as polysome-associated mRNA in order to identify transcripts regulated by EIF1AX at the level of translation.

PROVIDER: phs001370 | dbGaP |

SECONDARY ACCESSION(S): PRJNA386840PRJNA386839

REPOSITORIES: dbGaP

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Dataset's files

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			Action	DRS
	GapExchange_phs001370.v1.p1.xml	Xml
	dbGaPEx2.1.5.xsd	Other
	Study_Report.phs001370.UvealMelanoma.v1.p1.MULTI.pdf	Pdf
	manifest_phs001370.UvealMelanoma.v1.p1.c1.DS-CA-MDS.pdf	Pdf
	manifest_phs001370.UvealMelanoma.v1.p1.c2.DS-UM-NPU.pdf	Pdf

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