Inglese

This pedigree data table contains family relationships in the format of family IDs, subject IDs, father IDs, mother IDs, subjects's sex, twin IDs, and indicator for monozygotic and dizygotic twins.

6 moduli  
  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. The subject consent data table contains subject IDs, consent information, and pooled subject IDs.
    3. This pedigree data table contains family relationships in the format of family IDs, subject IDs, father IDs, mother IDs, subjects's sex, twin IDs, and indicator for monozygotic and dizygotic twins.
    4. This data table contains 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.
    5. This subject phenotype table includes subject's sex, age at enrollment, race (n=3 variables; self-reported, race/ethnicity grouped by researcher, and genetically similar population groups), heart diagnoses (n=5 variables; primary diagnoses and classification, other diagnoses, comments, and disease ontology), IPSCORE IDs, and indicators if subject was part of a study/paper (n=10 variables; iPSCORE resource, aberrant iPSC methylation in twins, WGS, eQTL, allele-specific NKX2-5 binding in iPSC-CMs, Hi-C in iPSCs and iPSC-CMs, mutational burden of iPSCs, iPSC-derived retinal pigment epithelium, structural variation in IPSCORE, and lncrnas in iPSC-CMs).
    6. This sample attributes table includes sample histological type, tumor status, clone and passage number of cell lines, method used to generate iPSCs, analyte type, sample source, genotyping center, sequencing center, array version, array coordinates (n=2 variables; Illumina and paired germline sample), differentiation protocol, chromatin based assay, and indicators if sample was part of a study/paper (n=11 variables; iPSCORE resource, aberrant iPSC methylation in twins, eQTL, allele-specific NKX2-5 binding in iPSC-CMs, Hi-C in iPSCs and iPSC-CMs, mutational burden of iPSCs, iPSC-derived retinal pigment epithelium, structural variation in iPSCORE, lncrnas in iPSC-CMs, differentiation of iPSCs to iPSC-CMs or cardiovascular precursor cells (CVPC), and co-accessibility between ATAC sites within iPSCs), other IDs (n=4 variables; UCSD source tissue, UCSD iPSC clone, UCSD differentiation, WiCell), and sample group as used in iPSCORE resource paper.
pht006321
Descrizione

pht006321

Alias
UMLS CUI [1,1]
C3846158
Family ID
Descrizione

FAMILY_ID

Tipo di dati

text

Alias
UMLS CUI [1,1]
C3669174
SUBJECT_ID
Descrizione

SUBJECT_ID

Tipo di dati

string

Alias
UMLS CUI [1,1]
C2348585
Father's SUBJECT_ID
Descrizione

FATHER_SUBJECT_ID

Tipo di dati

string

Alias
UMLS CUI [1,1]
C3669177
UMLS CUI [1,2]
C0030761
Mother's SUBJECT_ID
Descrizione

MOTHER_SUBJECT_ID

Tipo di dati

string

Alias
UMLS CUI [1,1]
C3669352
UMLS CUI [1,2]
C0030761
Subject sex
Descrizione

SEX

Tipo di dati

text

Alias
UMLS CUI [1,1]
C0079399
Number indicating pair of monozygotic twins
Descrizione

TWIN_ID

Tipo di dati

text

Alias
UMLS CUI [1,1]
C0041432
UMLS CUI [1,2]
C0600091
An indicator when an individual is a monozygotic or dizygotic twin.
Descrizione

MZorDZ

Tipo di dati

text

Alias
UMLS CUI [1,1]
C0041427
UMLS CUI [1,2]
C2348585
UMLS CUI [1,3]
C0030761
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Similar models

This pedigree data table contains family relationships in the format of family IDs, subject IDs, father IDs, mother IDs, subjects's sex, twin IDs, and indicator for monozygotic and dizygotic twins.

6 moduli
  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. The subject consent data table contains subject IDs, consent information, and pooled subject IDs.
    3. This pedigree data table contains family relationships in the format of family IDs, subject IDs, father IDs, mother IDs, subjects's sex, twin IDs, and indicator for monozygotic and dizygotic twins.
    4. This data table contains 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.
    5. This subject phenotype table includes subject's sex, age at enrollment, race (n=3 variables; self-reported, race/ethnicity grouped by researcher, and genetically similar population groups), heart diagnoses (n=5 variables; primary diagnoses and classification, other diagnoses, comments, and disease ontology), IPSCORE IDs, and indicators if subject was part of a study/paper (n=10 variables; iPSCORE resource, aberrant iPSC methylation in twins, WGS, eQTL, allele-specific NKX2-5 binding in iPSC-CMs, Hi-C in iPSCs and iPSC-CMs, mutational burden of iPSCs, iPSC-derived retinal pigment epithelium, structural variation in IPSCORE, and lncrnas in iPSC-CMs).
    6. This sample attributes table includes sample histological type, tumor status, clone and passage number of cell lines, method used to generate iPSCs, analyte type, sample source, genotyping center, sequencing center, array version, array coordinates (n=2 variables; Illumina and paired germline sample), differentiation protocol, chromatin based assay, and indicators if sample was part of a study/paper (n=11 variables; iPSCORE resource, aberrant iPSC methylation in twins, eQTL, allele-specific NKX2-5 binding in iPSC-CMs, Hi-C in iPSCs and iPSC-CMs, mutational burden of iPSCs, iPSC-derived retinal pigment epithelium, structural variation in iPSCORE, lncrnas in iPSC-CMs, differentiation of iPSCs to iPSC-CMs or cardiovascular precursor cells (CVPC), and co-accessibility between ATAC sites within iPSCs), other IDs (n=4 variables; UCSD source tissue, UCSD iPSC clone, UCSD differentiation, WiCell), and sample group as used in iPSCORE resource paper.
Name
genere
Description | Question | Decode (Coded Value)
Tipo di dati
Alias
Item Group
pht006321
C3846158 (UMLS CUI [1,1])
FAMILY_ID
Item
Family ID
text
C3669174 (UMLS CUI [1,1])
SUBJECT_ID
Item
SUBJECT_ID
string
C2348585 (UMLS CUI [1,1])
FATHER_SUBJECT_ID
Item
Father's SUBJECT_ID
string
C3669177 (UMLS CUI [1,1])
C0030761 (UMLS CUI [1,2])
MOTHER_SUBJECT_ID
Item
Mother's SUBJECT_ID
string
C3669352 (UMLS CUI [1,1])
C0030761 (UMLS CUI [1,2])
Item
Subject sex
text
C0079399 (UMLS CUI [1,1])
SEX
Code List
Subject sex
CL Item
Female (F)
C0086287 (UMLS CUI [1,1])
CL Item
Male (M)
C0086582 (UMLS CUI [1,1])
TWIN_ID
Item
Number indicating pair of monozygotic twins
text
C0041432 (UMLS CUI [1,1])
C0600091 (UMLS CUI [1,2])
Item
An indicator when an individual is a monozygotic or dizygotic twin.
text
C0041427 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
C0030761 (UMLS CUI [1,3])
MZorDZ
Code List
An indicator when an individual is a monozygotic or dizygotic twin.
CL Item
not a twin (0)
CL Item
dizygotic (DZ)
CL Item
monozygotic (MZ)
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