ID

45757

Descrição

Principal Investigator: Daphne W. Bell, PhD, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA MeSH: Endometrial Neoplasms,Carcinosarcoma https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001152 The purpose of this study was to identify somatic (tumor-specific) mutations in endometrial carcinosarcoma tumor exomes. The dataset was generated at the NIH Intramural Sequencing Center (NISC) and NHGRI by next generation sequencing the exomes of 14 de-identified primary tumor DNAs and matched non-tumor DNAs.

Link

dbGaP-study=phs001152

Palavras-chave

  1. 14/06/2023 14/06/2023 - Chiara Middel
Titular dos direitos

Daphne W. Bell, PhD, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA

Transferido a

14 de junho de 2023

DOI

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Licença

Creative Commons BY 4.0

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dbGaP phs001152 Somatic Mutational Analysis by Exome Sequencing Endometrial Carcinosarcomas

Sample ID, body site where sample was collected, analyte type, tumor status of sample, histological type of sample, primary tumor or metastasis, primary tumor location, and name of the center which conducted sequencing of samples obtained from participants with endometrial carcinosarcomas and involved in the "Somatic Mutational Analysis by Exome Sequencing Endometrial Carcinosarcomas" project.

pht005537
Descrição

pht005537

Alias
UMLS CUI [1,1]
C3846158
De-identified sample ID
Descrição

SAMPLE_ID

Tipo de dados

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C1299222
Body site where sample was collected [ENDOMETRIUM/MYOMETRIUM, MYOMETRIUM, OVARY, UTERUS, ENDOMETRIUM, UNKNOWN]
Descrição

BODY SITE

Tipo de dados

string

Alias
UMLS CUI [1,1]
C0449705
Analyte type [DNA]
Descrição

ANALYTE TYPE

Tipo de dados

string

Alias
UMLS CUI [1,1]
C4744818
Tumor status
Descrição

IS_TUMOR

Tipo de dados

text

Alias
UMLS CUI [1,1]
C0475752
Cell or tissue type or subtype of sample [Endometrioid]
Descrição

HISTOLOGICAL TYPE

Tipo de dados

string

Alias
UMLS CUI [1,1]
C2347026
UMLS CUI [1,2]
C0007634
UMLS CUI [1,3]
C0332307
UMLS CUI [1,4]
C0449560
UMLS CUI [1,5]
C1292533
Primary tumor, metastasis, or transformed cell line [PRIMARY]
Descrição

PRIMARY_METASTATIC_TUMOR

Tipo de dados

string

Alias
UMLS CUI [1,1]
C0677930
UMLS CUI [2,1]
C0027627
UMLS CUI [3,1]
C0007601
Primary tumor location [ENDOMETRIUM]
Descrição

PRIMARY TUMOR LOCATION

Tipo de dados

string

Alias
UMLS CUI [1,1]
C0475447
Name of the center which conducted sequencing [NHGRI_NISC]
Descrição

SEQUENCING_CENTER

Tipo de dados

string

Alias
UMLS CUI [1,1]
C1301943
UMLS CUI [1,2]
C0565990
UMLS CUI [1,3]
C1561491

Similar models

Sample ID, body site where sample was collected, analyte type, tumor status of sample, histological type of sample, primary tumor or metastasis, primary tumor location, and name of the center which conducted sequencing of samples obtained from participants with endometrial carcinosarcomas and involved in the "Somatic Mutational Analysis by Exome Sequencing Endometrial Carcinosarcomas" project.

Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de dados
Alias
Item Group
pht005537
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 [ENDOMETRIUM/MYOMETRIUM, MYOMETRIUM, OVARY, UTERUS, ENDOMETRIUM, UNKNOWN]
string
C0449705 (UMLS CUI [1,1])
ANALYTE TYPE
Item
Analyte type [DNA]
string
C4744818 (UMLS CUI [1,1])
Item
Tumor status
text
C0475752 (UMLS CUI [1,1])
Code List
Tumor status
CL Item
Is tumor (Y)
C0027651 (UMLS CUI [1,1])
CL Item
Is not a tumor (N)
C0027651 (UMLS CUI [1,1])
C1518422 (UMLS CUI [1,2])
HISTOLOGICAL TYPE
Item
Cell or tissue type or subtype of sample [Endometrioid]
string
C2347026 (UMLS CUI [1,1])
C0007634 (UMLS CUI [1,2])
C0332307 (UMLS CUI [1,3])
C0449560 (UMLS CUI [1,4])
C1292533 (UMLS CUI [1,5])
PRIMARY_METASTATIC_TUMOR
Item
Primary tumor, metastasis, or transformed cell line [PRIMARY]
string
C0677930 (UMLS CUI [1,1])
C0027627 (UMLS CUI [2,1])
C0007601 (UMLS CUI [3,1])
PRIMARY TUMOR LOCATION
Item
Primary tumor location [ENDOMETRIUM]
string
C0475447 (UMLS CUI [1,1])
SEQUENCING_CENTER
Item
Name of the center which conducted sequencing [NHGRI_NISC]
string
C1301943 (UMLS CUI [1,1])
C0565990 (UMLS CUI [1,2])
C1561491 (UMLS CUI [1,3])

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