ID
45372
Description
Principal Investigator: Levi Garraway, M.D. Ph. D, Dana Farber Cancer Institute, Boston, MA USA; Broad Institute, Cambridge, MA USA MeSH: Melanoma https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000452 Melanoma is the most prevalent cause of skin cancer morbidity and mortality. In order to characterize the full range of somatic mutations that may drive the growth of melanoma, we are sequencing tumor and normal DNA from a set of roughly 150 melanomas. For the majority of samples (approximately 90% of the cases) mutations in protein coding genes will be assessed in the exonic DNA of tumor-normal pairs using hybrid capture and paired-end DNA sequencing. Additionally, in a few DNA samples (approximately 10% of the cases) the entire genomes will be analyzed to assess the possible contribution of complex structural rearrangements contributing to oncogenesis. The sequencing data are supplemented by copy number profiling on the same tumors using high-density SNP arrays. Integration of these approaches will enable the unbiased and comprehensive characterization of both known and novel recurrent DNA alterations that arise in melanoma.
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Versions (1)
- 11/4/22 11/4/22 - Chiara Middel
Copyright Holder
Levi Garraway, M.D. Ph. D, Dana Farber Cancer Institute, Boston, MA USA; Broad Institute, Cambridge, MA USA
Uploaded on
November 4, 2022
DOI
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License
Creative Commons BY 4.0
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dbGaP phs000452 Melanoma Genome Sequencing Project
Subject ID, subject source, source subject ID, and consent group of participants with melanoma and involved in the "Melanoma Genome Sequencing Project" project.
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, subject source, source subject ID, and consent group of participants with melanoma and involved in the "Melanoma Genome Sequencing Project" project.
- Subject ID, sample ID, sample source, source sample ID, and sample use variable of participants with melanoma and involved in the "Melanoma Genome Sequencing Project" project.
- Subject ID, affection status, gender, age at biopsy and diagnosis, cancer stage of tumor, tumor characteristics, tumor treatment of participants with melanoma and involved in the "Melanoma Genome Sequencing Project" project.
- Sample ID, % of melanoma cells in sample, analyte type, comments on histopathology, sample site, and sample type of participants with melanoma and involved in the "Melanoma Genome Sequencing Project" project.
Similar models
Subject ID, subject source, source subject ID, and consent group of participants with melanoma and involved in the "Melanoma Genome Sequencing Project" project.
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, subject source, source subject ID, and consent group of participants with melanoma and involved in the "Melanoma Genome Sequencing Project" project.
- Subject ID, sample ID, sample source, source sample ID, and sample use variable of participants with melanoma and involved in the "Melanoma Genome Sequencing Project" project.
- Subject ID, affection status, gender, age at biopsy and diagnosis, cancer stage of tumor, tumor characteristics, tumor treatment of participants with melanoma and involved in the "Melanoma Genome Sequencing Project" project.
- Sample ID, % of melanoma cells in sample, analyte type, comments on histopathology, sample site, and sample type of participants with melanoma and involved in the "Melanoma Genome Sequencing Project" project.
C3847505 (UMLS CUI [1,2])
C0449416 (UMLS CUI [1,2])
C3847505 (UMLS CUI [1,3])