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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.

9 Formulaires  
  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.
pht005179
Description

pht005179

ADSP Subject ID
Description

SUBJID

Type de données

text

Alias
UMLS CUI [1,1]
C2348585
Sex
Description

Sex

Type de données

text

Alias
UMLS CUI [1,1]
C0079399
Status for Prevalent AD
Description

PrevAD

Type de données

text

Alias
UMLS CUI [1,1]
C0002395
UMLS CUI [1,2]
C5204628
Status for Incident AD
Description

IncAD

Type de données

text

Alias
UMLS CUI [1,1]
C0002395
UMLS CUI [1,2]
C1551358
Age at Onset for Cases; Age at Last Exam for Controls
Description

Age

Type de données

text

Unités de mesure
  • 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)
Description

Age_baseline

Type de données

text

Unités de mesure
  • years
Alias
UMLS CUI [1,1]
C0001779
UMLS CUI [1,2]
C1442488
APOE genotype
Description

APOE

Type de données

text

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

AUTOPSY

Type de données

text

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

Braak

Type de données

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
Description

Race

Type de données

text

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

Ethnicity

Type de données

text

Alias
UMLS CUI [1,1]
C0086409
UMLS CUI [1,2]
C1518424
Indicator variable for how individual was selected
Description

Selection

Type de données

text

Alias
UMLS CUI [1,1]
C0237401
UMLS CUI [1,2]
C1707391
Status of Alzheimer's Disease Diagnosis
Description

AD

Type de données

text

Alias
UMLS CUI [1,1]
C0002395
UMLS CUI [1,2]
C3274646
Notes about AD Status Conversions
Description

Comment

Type de données

text

Alias
UMLS CUI [1,1]
C0002395
UMLS CUI [1,2]
C0449438
UMLS CUI [1,3]
C0439836
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Similar models

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.

9 Formulaires
  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
Type
Description | Question | Decode (Coded Value)
Type de données
Alias
Item Group
pht005179
SUBJID
Item
ADSP Subject ID
text
C2348585 (UMLS CUI [1,1])
Item
Sex
text
C0079399 (UMLS CUI [1,1])
Sex
Code List
Sex
CL Item
Male (0)
CL Item
Female (1)
Item
Status for Prevalent AD
text
C0002395 (UMLS CUI [1,1])
C5204628 (UMLS CUI [1,2])
PrevAD
Code List
Status for Prevalent AD
CL Item
No Prevalent AD (0)
CL Item
Prevalent AD (1)
CL Item
Not Applicable (NA)
Item
Status for Incident AD
text
C0002395 (UMLS CUI [1,1])
C1551358 (UMLS CUI [1,2])
IncAD
Code List
Status for Incident AD
CL Item
No Incident AD (0)
CL Item
Incident AD (1)
CL Item
Not Applicable (NA)
Item
Age at Onset for Cases; Age at Last Exam 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 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 (0)
CL Item
Yes (1)
CL Item
Not Applicable (NA)
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 (NA)
Item
Indicator variable for how individual was selected
text
C0237401 (UMLS CUI [1,1])
C1707391 (UMLS CUI [1,2])
Selection
Code List
Indicator variable for how individual was selected
CL Item
Unrelated Case or Control (1)
CL Item
Enriched Case or Control (2)
Item
Status of Alzheimer's Disease Diagnosis
text
C0002395 (UMLS CUI [1,1])
C3274646 (UMLS CUI [1,2])
AD
Code List
Status of Alzheimer's Disease Diagnosis
CL Item
Control (0)
CL Item
Case (1)
CL Item
Not Applicable (NA)
Comment
Item
Notes about AD Status Conversions
text
C0002395 (UMLS CUI [1,1])
C0449438 (UMLS CUI [1,2])
C0439836 (UMLS CUI [1,3])
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