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.

Link

dbGaP-study=phs001112

Keywords

  1. 6/19/23 6/19/23 - Chiara Middel
Copyright Holder

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

Uploaded on

June 19, 2023

DOI

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License

Creative Commons BY 4.0

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dbGaP phs001112 Chromosome X Mosaicism Methylation Study

Eligibility Criteria

Inclusion and exclusion criteria
Description

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
Females with genotyping array detected X mosaic events greater than 2 Mb in size and with available DNA
Description

Elig.phs001112.v1.p1.1

Data type

boolean

Alias
UMLS CUI [1,1]
C0086287
UMLS CUI [1,2]
C5239481
UMLS CUI [1,3]
C1511790
UMLS CUI [1,4]
C0043292
UMLS CUI [1,5]
C0314654
UMLS CUI [1,6]
C0441471
UMLS CUI [1,7]
C0456389
UMLS CUI [1,8]
C0470187
UMLS CUI [1,9]
C0012854

Similar models

Eligibility Criteria

Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
Elig.phs001112.v1.p1.1
Item
Females with genotyping array detected X mosaic events greater than 2 Mb in size and with available DNA
boolean
C0086287 (UMLS CUI [1,1])
C5239481 (UMLS CUI [1,2])
C1511790 (UMLS CUI [1,3])
C0043292 (UMLS CUI [1,4])
C0314654 (UMLS CUI [1,5])
C0441471 (UMLS CUI [1,6])
C0456389 (UMLS CUI [1,7])
C0470187 (UMLS CUI [1,8])
C0012854 (UMLS CUI [1,9])

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