Información:
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ID
45757
Descripción
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.
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Palabras clave
Versiones (1)
- 14/6/23 14/6/23 - Chiara Middel
Titular de derechos de autor
Daphne W. Bell, PhD, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
Subido en
14 de junio de 2023
DOI
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Licencia
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.
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, and affection status of participants with endometrial carcinosarcomas tumors and involved in the "Somatic Mutational Analysis by Exome Sequencing Endometrial Carcinosarcomas" project.
- Subject ID, sample ID, and sample use variable obtained from participants with endometrial carcinosarcomas and involved in the "Somatic Mutational Analysis by Exome Sequencing Endometrial Carcinosarcomas" project.
- Subject ID and sex of participants with endometrial carcinosarcomas and involved in the "Somatic Mutational Analysis by Exome Sequencing Endometrial Carcinosarcomas" project.
- 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.
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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.
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, and affection status of participants with endometrial carcinosarcomas tumors and involved in the "Somatic Mutational Analysis by Exome Sequencing Endometrial Carcinosarcomas" project.
- Subject ID, sample ID, and sample use variable obtained from participants with endometrial carcinosarcomas and involved in the "Somatic Mutational Analysis by Exome Sequencing Endometrial Carcinosarcomas" project.
- Subject ID and sex of participants with endometrial carcinosarcomas and involved in the "Somatic Mutational Analysis by Exome Sequencing Endometrial Carcinosarcomas" project.
- 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 datos
Alias
SAMPLE_ID
Item
De-identified sample ID
string
C4684638 (UMLS CUI [1,1])
C1299222 (UMLS CUI [1,2])
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])
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])
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])
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])
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])
C0565990 (UMLS CUI [1,2])
C1561491 (UMLS CUI [1,3])
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