ID

45372

Beschreibung

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

Stichworte

  1. 04.11.22 04.11.22 - Chiara Middel
Rechteinhaber

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

Hochgeladen am

4. November 2022

DOI

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Lizenz

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.

pht002589
Beschreibung

pht002589

Subject ID
Beschreibung

SUBJECT_ID

Datentyp

string

Alias
UMLS CUI [1,1]
C2348585
Consent group as determined by DAC
Beschreibung

CONSENT

Datentyp

text

Alias
UMLS CUI [1,1]
C0021430
Source repository where subjects originate
Beschreibung

SUBJECT_SOURCE

Datentyp

string

Alias
UMLS CUI [1,1]
C0449416
UMLS CUI [1,2]
C3847505
Subject ID used in the Source Repository
Beschreibung

SOURCE_SUBJECT_ID

Datentyp

string

Alias
UMLS CUI [1,1]
C2348585
UMLS CUI [1,2]
C0449416
UMLS CUI [1,3]
C3847505

Ähnliche Modelle

Subject ID, subject source, source subject ID, and consent group of participants with melanoma and involved in the "Melanoma Genome Sequencing Project" project.

Name
Typ
Description | Question | Decode (Coded Value)
Datentyp
Alias
Item Group
pht002589
SUBJECT_ID
Item
Subject ID
string
C2348585 (UMLS CUI [1,1])
Item
Consent group as determined by DAC
text
C0021430 (UMLS CUI [1,1])
Code List
Consent group as determined by DAC
CL Item
General Research Use (GRU) (1)
CL Item
Disease-Specific (Melanoma) (DS-M) (2)
SUBJECT_SOURCE
Item
Source repository where subjects originate
string
C0449416 (UMLS CUI [1,1])
C3847505 (UMLS CUI [1,2])
SOURCE_SUBJECT_ID
Item
Subject ID used in the Source Repository
string
C2348585 (UMLS CUI [1,1])
C0449416 (UMLS CUI [1,2])
C3847505 (UMLS CUI [1,3])

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