ID

45372

Descrição

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.

Link

dbGap-study=phs000452

Palavras-chave

  1. 04/11/2022 04/11/2022 - Chiara Middel
Titular dos direitos

Levi Garraway, M.D. Ph. D, Dana Farber Cancer Institute, Boston, MA USA; Broad Institute, Cambridge, MA USA

Transferido a

4 de novembro de 2022

DOI

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Licença

Creative Commons BY 4.0

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dbGaP phs000452 Melanoma Genome Sequencing 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.

pht002592
Descrição

pht002592

De-identified sample ID
Descrição

SAMPLE_ID

Tipo de dados

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C1299222
Indicates the Tumor/Normal status of a sample
Descrição

SAMPLE_TYPE

Tipo de dados

string

Alias
UMLS CUI [1,1]
C0475358
UMLS CUI [1,2]
C0205307
UMLS CUI [1,3]
C0040300
UMLS CUI [1,4]
C0449438
Analyte type [DNA, RNA]
Descrição

ANALYTE_TYPE

Tipo de dados

string

Alias
UMLS CUI [1,1]
C4744818
UMLS CUI [1,2]
C0012854
UMLS CUI [1,3]
C0035668
Material from which analyte was extracted [Fresh Frozen Tissue; Cell Line, Viable; Whole Blood; Fresh Tissue; Whole Blood: PBMC]
Descrição

Original Material Type

Tipo de dados

string

Alias
UMLS CUI [1,1]
C0520510
UMLS CUI [1,2]
C0443354
UMLS CUI [1,3]
C0185115
Indicates whether tumor sample represents a primary melanoma, recurrent melanoma or a metastases
Descrição

Tumor Type

Tipo de dados

string

Alias
UMLS CUI [1,1]
C0475358
UMLS CUI [1,2]
C0025202
UMLS CUI [1,3]
C0677930
UMLS CUI [1,4]
C0277556
UMLS CUI [1,5]
C0027627
Body site where sample was collected
Descrição

Sample Site

Tipo de dados

string

Alias
UMLS CUI [1,1]
C1515974
UMLS CUI [1,2]
C0200345
Indicates purity of the sample used [Unknown]
Descrição

% Melanoma Cells

Tipo de dados

text

Unidades de medida
  • %
Alias
UMLS CUI [1,1]
C1882508
UMLS CUI [1,2]
C2347026
%
Comments about the sample as entered by a pathologist
Descrição

Comments on Histopathology

Tipo de dados

string

Alias
UMLS CUI [1,1]
C0334866
UMLS CUI [1,2]
C0947611
UMLS CUI [1,3]
C2347026

Similar models

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.

Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de dados
Alias
Item Group
pht002592
SAMPLE_ID
Item
De-identified sample ID
string
C4684638 (UMLS CUI [1,1])
C1299222 (UMLS CUI [1,2])
SAMPLE_TYPE
Item
Indicates the Tumor/Normal status of a sample
string
C0475358 (UMLS CUI [1,1])
C0205307 (UMLS CUI [1,2])
C0040300 (UMLS CUI [1,3])
C0449438 (UMLS CUI [1,4])
ANALYTE_TYPE
Item
Analyte type [DNA, RNA]
string
C4744818 (UMLS CUI [1,1])
C0012854 (UMLS CUI [1,2])
C0035668 (UMLS CUI [1,3])
Original Material Type
Item
Material from which analyte was extracted [Fresh Frozen Tissue; Cell Line, Viable; Whole Blood; Fresh Tissue; Whole Blood: PBMC]
string
C0520510 (UMLS CUI [1,1])
C0443354 (UMLS CUI [1,2])
C0185115 (UMLS CUI [1,3])
Tumor Type
Item
Indicates whether tumor sample represents a primary melanoma, recurrent melanoma or a metastases
string
C0475358 (UMLS CUI [1,1])
C0025202 (UMLS CUI [1,2])
C0677930 (UMLS CUI [1,3])
C0277556 (UMLS CUI [1,4])
C0027627 (UMLS CUI [1,5])
Sample Site
Item
Body site where sample was collected
string
C1515974 (UMLS CUI [1,1])
C0200345 (UMLS CUI [1,2])
% Melanoma Cells
Item
Indicates purity of the sample used [Unknown]
text
C1882508 (UMLS CUI [1,1])
C2347026 (UMLS CUI [1,2])
Comments on Histopathology
Item
Comments about the sample as entered by a pathologist
string
C0334866 (UMLS CUI [1,1])
C0947611 (UMLS CUI [1,2])
C2347026 (UMLS CUI [1,3])

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