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Connecting Family Subject Phenotypes year 1: participants' family members' AD affection status, Braak stage, APOE allele presence, availability of autopsy material, and general sociodemographic data (race and ethnicity).

9 Formulär  
  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. The subject consent data table includes subject IDs, consent information, and subject aliases.
    3. This pedigree data table contains family relationships in the format of family IDs, subject IDs, father IDs, mother IDs, subjects's sex, and family group ethnicity.
    4. This subject sample mapping data table includes a 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. Family Subject Phenotypes (WGS) year 1: AD affection status, Braak stage, presence of APOE allele combinations, availability of autopsy material, and general sociodemographic (race and ethnicity) data of participants for whom whole genome sequencing (WGS) data are available.
    6. This sample attributes table includes body site where sample was collected, analyte type, tumor status, and sequencing center.
    7. Connecting Family Subject Phenotypes year 1: participants' family members' AD affection status, Braak stage, APOE allele presence, availability of autopsy material, and general sociodemographic data (race and ethnicity).
    8. Case Control Enriched Phenotypes (WES) year 0: prevalent and incident AD status, AD diagnosis, selection criteria, age (n=2 variables; baseline, onset or last exam), APOE genotype, availability of autopsy data, Braak stage, and general sociodemographic (race and ethnicity) of participants for whom whole exome sequencing (WXS) data are available.
    9. Case Control Enriched Phenotypes (WES) year 1: prevalent and incident AD status, AD diagnosis, selection criteria, age (n=2 variables; baseline, onset or last exam), APOE genotype, availability of autopsy data, Braak stage, and general sociodemographic (race and ethnicity) of participants for whom whole exome sequencing (WXS) data are available.
pht003454
Beskrivning

pht003454

ADSP Subject ID
Beskrivning

SUBJID

Datatyp

text

Alias
UMLS CUI [1,1]
C2348585
Family ID
Beskrivning

FamID

Datatyp

text

Alias
UMLS CUI [1,1]
C0015576
UMLS CUI [1,2]
C2349022
Sex
Beskrivning

Sex

Datatyp

text

Alias
UMLS CUI [1,1]
C0079399
Alzheimer Disease Status; Family Study
Beskrivning

AD

Datatyp

text

Alias
UMLS CUI [1,1]
C0002395
UMLS CUI [1,2]
C0241889
Age at Onset for Cases/Age at Last Exam or Last Family Report for Controls
Beskrivning

Age

Datatyp

text

Måttenheter
  • years
Alias
UMLS CUI [1,1]
C1706256
UMLS CUI [1,2]
C0206132
UMLS CUI [2,1]
C0009932
UMLS CUI [2,2]
C0001779
UMLS CUI [2,3]
C1513491
UMLS CUI [2,4]
C0582103
Age at baseline (first examined; entered study)
Beskrivning

Age_baseline

Datatyp

text

Måttenheter
  • years
Alias
UMLS CUI [1,1]
C0001779
UMLS CUI [1,2]
C1442488
APOE genotype
Beskrivning

APOE

Datatyp

text

Alias
UMLS CUI [1,1]
C1412481
UMLS CUI [1,2]
C0017431
Whether Autopsy Data is Available
Beskrivning

AUTOPSY

Datatyp

text

Alias
UMLS CUI [1,1]
C3263258
Braak Stage from Autopsy
Beskrivning

Braak

Datatyp

text

Alias
UMLS CUI [1,1]
C0699749
UMLS CUI [1,2]
C0449394
UMLS CUI [1,3]
C0004398
UMLS CUI [1,4]
C0524851
NIH Racial Categories
Beskrivning

Race

Datatyp

text

Alias
UMLS CUI [1,1]
C0034510
Hispanic or Latino or Not Hispanic or Latino
Beskrivning

Ethnicity

Datatyp

text

Alias
UMLS CUI [1,1]
C0086409
UMLS CUI [1,2]
C1518424
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Similar models

Connecting Family Subject Phenotypes year 1: participants' family members' AD affection status, Braak stage, APOE allele presence, availability of autopsy material, and general sociodemographic data (race and ethnicity).

9 Formulär
  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. The subject consent data table includes subject IDs, consent information, and subject aliases.
    3. This pedigree data table contains family relationships in the format of family IDs, subject IDs, father IDs, mother IDs, subjects's sex, and family group ethnicity.
    4. This subject sample mapping data table includes a 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. Family Subject Phenotypes (WGS) year 1: AD affection status, Braak stage, presence of APOE allele combinations, availability of autopsy material, and general sociodemographic (race and ethnicity) data of participants for whom whole genome sequencing (WGS) data are available.
    6. This sample attributes table includes body site where sample was collected, analyte type, tumor status, and sequencing center.
    7. Connecting Family Subject Phenotypes year 1: participants' family members' AD affection status, Braak stage, APOE allele presence, availability of autopsy material, and general sociodemographic data (race and ethnicity).
    8. Case Control Enriched Phenotypes (WES) year 0: prevalent and incident AD status, AD diagnosis, selection criteria, age (n=2 variables; baseline, onset or last exam), APOE genotype, availability of autopsy data, Braak stage, and general sociodemographic (race and ethnicity) of participants for whom whole exome sequencing (WXS) data are available.
    9. Case Control Enriched Phenotypes (WES) year 1: prevalent and incident AD status, AD diagnosis, selection criteria, age (n=2 variables; baseline, onset or last exam), APOE genotype, availability of autopsy data, Braak stage, and general sociodemographic (race and ethnicity) of participants for whom whole exome sequencing (WXS) data are available.
Name
Typ
Description | Question | Decode (Coded Value)
Datatyp
Alias
Item Group
pht003454
SUBJID
Item
ADSP Subject ID
text
C2348585 (UMLS CUI [1,1])
FamID
Item
Family ID
text
C0015576 (UMLS CUI [1,1])
C2349022 (UMLS CUI [1,2])
Item
Sex
text
C0079399 (UMLS CUI [1,1])
Sex
Code List
Sex
CL Item
Male (0)
CL Item
Female (1)
Item
Alzheimer Disease Status; Family Study
text
C0002395 (UMLS CUI [1,1])
C0241889 (UMLS CUI [1,2])
AD
Code List
Alzheimer Disease Status; Family Study
CL Item
No dementia (0)
CL Item
Definite AD (1)
CL Item
Probable AD (2)
CL Item
Possible AD (3)
CL Item
Family Reported AD (4)
CL Item
Other Dementia (5)
CL Item
Unknown (9)
CL Item
Family Reported No Dementia (10)
Item
Age at Onset for Cases/Age at Last Exam or Last Family Report for Controls
text
C1706256 (UMLS CUI [1,1])
C0206132 (UMLS CUI [1,2])
C0009932 (UMLS CUI [2,1])
C0001779 (UMLS CUI [2,2])
C1513491 (UMLS CUI [2,3])
C0582103 (UMLS CUI [2,4])
Age
Code List
Age at Onset for Cases/Age at Last Exam or Last Family Report for Controls
CL Item
Not Applicable (NA)
Item
Age at baseline (first examined; entered study)
text
C0001779 (UMLS CUI [1,1])
C1442488 (UMLS CUI [1,2])
Age_baseline
Code List
Age at baseline (first examined; entered study)
CL Item
Not Applicable (NA)
Item
APOE genotype
text
C1412481 (UMLS CUI [1,1])
C0017431 (UMLS CUI [1,2])
APOE
Code List
APOE genotype
CL Item
22 (22)
CL Item
23 (23)
CL Item
24 (24)
CL Item
33 (33)
CL Item
34 (34)
CL Item
44 (44)
Item
Whether Autopsy Data is Available
text
C3263258 (UMLS CUI [1,1])
AUTOPSY
Code List
Whether Autopsy Data is Available
CL Item
No dementia (0)
CL Item
Yes (1)
Item
Braak Stage from Autopsy
text
C0699749 (UMLS CUI [1,1])
C0449394 (UMLS CUI [1,2])
C0004398 (UMLS CUI [1,3])
C0524851 (UMLS CUI [1,4])
Braak
Code List
Braak Stage from Autopsy
CL Item
0 (0)
CL Item
1 (1)
CL Item
2 (2)
CL Item
3 (3)
CL Item
4 (4)
CL Item
5 (5)
CL Item
6 (6)
CL Item
Not Applicable (NA)
Item
NIH Racial Categories
text
C0034510 (UMLS CUI [1,1])
Race
Code List
NIH Racial Categories
CL Item
American Indian/Alaska Native (1)
CL Item
Asian (2)
CL Item
Native Hawaiian or Other Pacific Islander (3)
CL Item
Black or African American (4)
CL Item
White (5)
CL Item
Other (6)
CL Item
Not Applicable (NA)
Item
Hispanic or Latino or Not Hispanic or Latino
text
C0086409 (UMLS CUI [1,1])
C1518424 (UMLS CUI [1,2])
Ethnicity
Code List
Hispanic or Latino or Not Hispanic or Latino
CL Item
Not Hispanic or Latino (0)
CL Item
Hispanic or Latino (1)
CL Item
Not Applicable/Not Available (NA)
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