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, sample ID, sample source, source sample ID, and sample use variable of participants with melanoma and involved in the "Melanoma Genome Sequencing Project" project.

pht002590
Beschreibung

pht002590

Subject ID
Beschreibung

SUBJECT_ID

Datentyp

string

Alias
UMLS CUI [1,1]
C2348585
Sample ID
Beschreibung

SAMPLE_ID

Datentyp

string

Alias
UMLS CUI [1,1]
C1299222
Source repository where samples originate
Beschreibung

SAMPLE_SOURCE

Datentyp

string

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

SOURCE_SAMPLE_ID

Datentyp

string

Alias
UMLS CUI [1,1]
C1299222
UMLS CUI [1,2]
C0449416
UMLS CUI [1,3]
C3847505
Sample Use
Beschreibung

SAMPLE_USE

Datentyp

text

Alias
UMLS CUI [1,1]
C1524063
UMLS CUI [1,2]
C2347026

Ähnliche Modelle

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.

Name
Typ
Description | Question | Decode (Coded Value)
Datentyp
Alias
Item Group
pht002590
SUBJECT_ID
Item
Subject ID
string
C2348585 (UMLS CUI [1,1])
SAMPLE_ID
Item
Sample ID
string
C1299222 (UMLS CUI [1,1])
SAMPLE_SOURCE
Item
Source repository where samples originate
string
C0449416 (UMLS CUI [1,1])
C3847505 (UMLS CUI [1,2])
SOURCE_SAMPLE_ID
Item
Sample ID used in the Source Repository
string
C1299222 (UMLS CUI [1,1])
C0449416 (UMLS CUI [1,2])
C3847505 (UMLS CUI [1,3])
SAMPLE_USE
Item
Sample Use
text
C1524063 (UMLS CUI [1,1])
C2347026 (UMLS CUI [1,2])

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