ID
45598
Descrizione
Principal Investigator: Levi Garraway, Dana-Farber Cancer Institute, Boston, MA, USA. Broad Institute, Cambridge, MA, USA MeSH: Melanoma, Uveal https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001370 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.
collegamento
Keywords
versioni (1)
- 09/02/23 09/02/23 - Simon Heim
Titolare del copyright
Levi Garraway, Dana-Farber Cancer Institute, Boston, MA, USA. Broad Institute, Cambridge, MA, USA
Caricato su
9 febbraio 2023
DOI
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Licenza
Creative Commons BY 4.0
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dbGaP phs001370 Whole Exome Sequencing of Uveal Melanoma
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file includes subject IDs and consent information.
- This data table contains a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample use.
- This subject phenotype table contains subject ID, gender, age, primary disease state, and cell line origin.
- This sample attributes table contains sample ID, sample type, tumor type, and analyte type.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file includes subject IDs and consent information.
- This data table contains a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample use.
- This subject phenotype table contains subject ID, gender, age, primary disease state, and cell line origin.
- This sample attributes table contains sample ID, sample type, tumor type, and analyte type.
C0680251 (UMLS CUI [1,2])
C0150934 (UMLS CUI [1,2])
C4520475 (UMLS CUI [1,3])
C1519805 (UMLS CUI [1,4])
C0220633 (UMLS CUI [1,5])
C1512693 (UMLS CUI [1,6])
C0021430 (UMLS CUI [1,7])
C2346499 (UMLS CUI [1,8])