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 data table contains a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample use.

pht005269
Description

pht005269

Alias
UMLS CUI [1,1]
C3846158
Subject ID
Description

SUBJECT_ID

Data type

string

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

SAMPLE_ID

Data type

string

Alias
UMLS CUI [1,1]
C1299222
Sample use. Seq_DNA_SNP_MAF_Sum: Samples were used to generate aggregate mutation annotation file (.maf); Seq_DNA_WholeExome: Whole exome sequencing; Seq_DNA_WholeGenome: Whole genome sequencing; Seq_RNA: Whole transcriptome sequencing
Description

SAMPLE_USE

Data type

string

Alias
UMLS CUI [1,1]
C2347026
UMLS CUI [1,2]
C1524063
UMLS CUI [1,3]
C0917792
UMLS CUI [1,4]
C0752046
UMLS CUI [1,5]
C3640077
UMLS CUI [1,6]
C3640076
UMLS CUI [1,7]
C0917793

Similar models

This data table contains a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample use.

Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht005269
C3846158 (UMLS CUI [1,1])
SUBJECT_ID
Item
Subject ID
string
C2348585 (UMLS CUI [1,1])
SAMPLE_ID
Item
Sample ID
string
C1299222 (UMLS CUI [1,1])
SAMPLE_USE
Item
Sample use. Seq_DNA_SNP_MAF_Sum: Samples were used to generate aggregate mutation annotation file (.maf); Seq_DNA_WholeExome: Whole exome sequencing; Seq_DNA_WholeGenome: Whole genome sequencing; Seq_RNA: Whole transcriptome sequencing
string
C2347026 (UMLS CUI [1,1])
C1524063 (UMLS CUI [1,2])
C0917792 (UMLS CUI [1,3])
C0752046 (UMLS CUI [1,4])
C3640077 (UMLS CUI [1,5])
C3640076 (UMLS CUI [1,6])
C0917793 (UMLS CUI [1,7])

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