ID

45831

Description

Principal Investigator: Jeffrey Sosman, MD, Vanderbilt University Medical Center, Nashville, TN, USA MeSH: Melanoma https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001036 In this study, we performed paired tumor/normal long insert whole genome and exome sequencing and tumor RNA sequencing on primary or metastatic acral melanoma tumors collected from 34 patients. Patients were enrolled from either Vanderbilt University or the Memorial Sloan-Kettering Cancer Center. We report an integrated analysis of DNA and RNA sequencing data to describe genomic and transcriptomic characteristics of acral melanoma.

Link

dbGaP study = phs001036

Keywords

  1. 8/5/23 8/5/23 - Simon Heim
Copyright Holder

Jeffrey Sosman, MD, Vanderbilt University Medical Center, Nashville, TN, USA

Uploaded on

August 5, 2023

DOI

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License

Creative Commons BY 4.0

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dbGaP phs001036 Genomic Characterization of Acral Melanoma

This sample attributes table contains sample ID, body site where sample was collected, analyte type, tumor status (n=3 variables; is tumor or not, primary tumor or metastasis, and tumor stage), and name of the center which conducted sequencing.

pht005271
Description

pht005271

Alias
UMLS CUI [1,1]
C3846158
De-identified Sample ID
Description

SAMPLE_ID

Data type

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C1299222
Body site where sample was collected
Description

BODY_SITE

Data type

string

Alias
UMLS CUI [1,1]
C0449705
Analyte Type
Description

ANALYTE_TYPE

Data type

string

Alias
UMLS CUI [1,1]
C4744818
Is the sample tumor
Description

IS_TUMOR

Data type

boolean

Alias
UMLS CUI [1,1]
C2347026
UMLS CUI [1,2]
C0027651
Is this the primary tumor or the metastasis
Description

PRIMARY_MET

Data type

text

Alias
UMLS CUI [1,1]
C0677930
UMLS CUI [1,2]
C0027627
Stage at presentation
Description

STAGE_PRESENTATION

Data type

string

Alias
UMLS CUI [1,1]
C1300072
UMLS CUI [1,2]
C0449450
Name of the center which conducted sequencing
Description

SEQUENCING_CENTER

Data type

string

Alias
UMLS CUI [1,1]
C1301943
UMLS CUI [1,2]
C5575037
UMLS CUI [1,3]
C1561491

Similar models

This sample attributes table contains sample ID, body site where sample was collected, analyte type, tumor status (n=3 variables; is tumor or not, primary tumor or metastasis, and tumor stage), and name of the center which conducted sequencing.

Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht005271
C3846158 (UMLS CUI [1,1])
SAMPLE_ID
Item
De-identified Sample ID
string
C4684638 (UMLS CUI [1,1])
C1299222 (UMLS CUI [1,2])
BODY_SITE
Item
Body site where sample was collected
string
C0449705 (UMLS CUI [1,1])
ANALYTE_TYPE
Item
Analyte Type
string
C4744818 (UMLS CUI [1,1])
IS_TUMOR
Item
Is the sample tumor
boolean
C2347026 (UMLS CUI [1,1])
C0027651 (UMLS CUI [1,2])
Item
Is this the primary tumor or the metastasis
text
C0677930 (UMLS CUI [1,1])
C0027627 (UMLS CUI [1,2])
Code List
Is this the primary tumor or the metastasis
CL Item
not applicable (NA)
C1272460 (UMLS CUI [1,1])
CL Item
metastasis (met)
C0027627 (UMLS CUI [1,1])
CL Item
primary tumor (primary)
C0677930 (UMLS CUI [1,1])
STAGE_PRESENTATION
Item
Stage at presentation
string
C1300072 (UMLS CUI [1,1])
C0449450 (UMLS CUI [1,2])
SEQUENCING_CENTER
Item
Name of the center which conducted sequencing
string
C1301943 (UMLS CUI [1,1])
C5575037 (UMLS CUI [1,2])
C1561491 (UMLS CUI [1,3])

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