ID

45772

Description

Principal Investigator: Stephen Chanock, National Cancer Institute, National Health Institute, Bethesda, MD, USA MeSH: Neoplasm https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001112 This study investigates methylation patterns in promoter regions on the X chromosomes of females with X chromosome mosaicism in an effort to phase mosaic events to either the active or inactive X chromosome.

Lien

dbGaP-study=phs001112

Mots-clés

  1. 19/06/2023 19/06/2023 - Chiara Middel
Détendeur de droits

Stephen Chanock, National Cancer Institute, National Health Institute, Bethesda, MD, USA

Téléchargé le

19 juin 2023

DOI

Pour une demande vous connecter.

Licence

Creative Commons BY 4.0

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dbGaP phs001112 Chromosome X Mosaicism Methylation Study

Sample ID, body site where sample was obtained, analyte type [DNA], histological type of sample, and tumor status of participants involved in the "Chromosome X Mosaicism Methylation Study" project.

pht005473
Description

pht005473

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

SAMPLE_ID

Type de données

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C1299222
Histological type [Blood, Buccal Cells, Buffy Coat, Unknown]
Description

HISTOLOGICAL_TYPE

Type de données

string

Alias
UMLS CUI [1,1]
C0449574
Body site where sample was collected [Inner Oral Cavity, Peripheral Blood; Unknown]
Description

BODY_SITE

Type de données

string

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

ANALYTE_TYPE

Type de données

string

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

IS_TUMOR

Type de données

string

Alias
UMLS CUI [1,1]
C0475752

Similar models

Sample ID, body site where sample was obtained, analyte type [DNA], histological type of sample, and tumor status of participants involved in the "Chromosome X Mosaicism Methylation Study" project.

Name
Type
Description | Question | Decode (Coded Value)
Type de données
Alias
Item Group
pht005473
C3846158 (UMLS CUI [1,1])
SAMPLE_ID
Item
De-identified sample ID
string
C4684638 (UMLS CUI [1,1])
C1299222 (UMLS CUI [1,2])
HISTOLOGICAL_TYPE
Item
Histological type [Blood, Buccal Cells, Buffy Coat, Unknown]
string
C0449574 (UMLS CUI [1,1])
BODY_SITE
Item
Body site where sample was collected [Inner Oral Cavity, Peripheral Blood; Unknown]
string
C0449705 (UMLS CUI [1,1])
ANALYTE_TYPE
Item
Analyte type [DNA]
string
C4744818 (UMLS CUI [1,1])
Item
Tumor status
string
C0475752 (UMLS CUI [1,1])
Code List
Tumor status
CL Item
Is not tumor (No)
CL Item
Is tumor (Yes)
C0027651 (UMLS CUI [1,1])

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