This sample attributes table includes body site where sample was collected, histological type, analyte type, tumor status, sequencing center, funding source, TOPMed phase, study name, and project.

  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. The subject consent data table contains subject IDs, consent group information, and subject aliases.
    3. 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.
    4. This subject phenotype table includes subject's sex, age at blood draw, and phenotype study (Amish Family HAPI Heart Study, Amish Family Longevity Study, and Amish Family Wellness Study). The variables collected at baseline visit are anthropometric measures (n=5; weight, height, bmi, whr, and waist), age, myocardial infarction, T2D, stroke, pregnancy status, CAC score and age, IMT thickness and plaque, EKG measures (n=4; QRS, QT, PR, and heart rate), inflammatory markers (n=4, fibrinogen, CRP, IL-6, Lpa), blood pressure (n=2, SBP and DBP), fasting insulin and glucose measures, blood measurements (n=10; WBC, hemoglobin, hematocrit, RBC, and platelets), metabolic measures (n=5; creatine, LDL, HDL, triglycerides, and total cholesterol), lung capacity (n=2; FVC and FEV), medications (n=3; hypertension, T2D, and lipid), and smoking status.
    5. This sample attributes table includes body site where sample was collected, histological type, analyte type, tumor status, sequencing center, funding source, TOPMed phase, study name, and project.
    6. The pedigree data table shows family relationships through family IDs, subject IDs, father IDs, mother IDs, twin IDs, gender, and second degree relationships.
pht005003
Descripción

pht005003

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

SAMPLE_ID

Tipo de datos

text

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C1299222
Body site where sample was collected
Descripción

BODY_SITE

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0449705
Analyte Type
Descripción

ANALYTE_TYPE

Tipo de datos

text

Alias
UMLS CUI [1,1]
C4744818
Cell or tissue type or subtype of sample
Descripción

HISTOLOGICAL_TYPE

Tipo de datos

text

Alias
UMLS CUI [1,1]
C2347026
UMLS CUI [1,2]
C0007634
UMLS CUI [1,3]
C0332307
UMLS CUI [2,1]
C2347026
UMLS CUI [2,2]
C0007634
UMLS CUI [2,3]
C0449560
UMLS CUI [3,1]
C1292533
UMLS CUI [3,2]
C0332307
UMLS CUI [4,1]
C1292533
UMLS CUI [4,2]
C0449560
Tumor status
Descripción

IS_TUMOR

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0475752
Sequencing center where whole genome sequencing took place - BROAD
Descripción

SEQUENCING_CENTER

Tipo de datos

text

Alias
UMLS CUI [1,1]
C1301943
UMLS CUI [1,2]
C5575037
UMLS CUI [1,3]
C3640076
Funding for WGS - TOPMed
Descripción

Funding_Source

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0681805
Phase of TOPMed - Phase 1
Descripción

TOPMed_Phase

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0008972
UMLS CUI [1,2]
C0205390
Name of TOPMed project - Amish
Descripción

TOPMed_Project

Tipo de datos

text

Alias
UMLS CUI [1,1]
C2348560
UMLS CUI [1,2]
C0238622
Name of dbGaP study - Amish
Descripción

Study_Name

Tipo de datos

text

Alias
UMLS CUI [1,1]
C2348560
UMLS CUI [1,2]
C0238622

Similar models

This sample attributes table includes body site where sample was collected, histological type, analyte type, tumor status, sequencing center, funding source, TOPMed phase, study name, and project.

  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. The subject consent data table contains subject IDs, consent group information, and subject aliases.
    3. 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.
    4. This subject phenotype table includes subject's sex, age at blood draw, and phenotype study (Amish Family HAPI Heart Study, Amish Family Longevity Study, and Amish Family Wellness Study). The variables collected at baseline visit are anthropometric measures (n=5; weight, height, bmi, whr, and waist), age, myocardial infarction, T2D, stroke, pregnancy status, CAC score and age, IMT thickness and plaque, EKG measures (n=4; QRS, QT, PR, and heart rate), inflammatory markers (n=4, fibrinogen, CRP, IL-6, Lpa), blood pressure (n=2, SBP and DBP), fasting insulin and glucose measures, blood measurements (n=10; WBC, hemoglobin, hematocrit, RBC, and platelets), metabolic measures (n=5; creatine, LDL, HDL, triglycerides, and total cholesterol), lung capacity (n=2; FVC and FEV), medications (n=3; hypertension, T2D, and lipid), and smoking status.
    5. This sample attributes table includes body site where sample was collected, histological type, analyte type, tumor status, sequencing center, funding source, TOPMed phase, study name, and project.
    6. The pedigree data table shows family relationships through family IDs, subject IDs, father IDs, mother IDs, twin IDs, gender, and second degree relationships.
Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de datos
Alias
Item Group
pht005003
C3846158 (UMLS CUI [1,1])
SAMPLE_ID
Item
De-identified sample ID
text
C4684638 (UMLS CUI [1,1])
C1299222 (UMLS CUI [1,2])
BODY_SITE
Item
Body site where sample was collected
text
C0449705 (UMLS CUI [1,1])
ANALYTE_TYPE
Item
Analyte Type
text
C4744818 (UMLS CUI [1,1])
HISTOLOGICAL_TYPE
Item
Cell or tissue type or subtype of sample
text
C2347026 (UMLS CUI [1,1])
C0007634 (UMLS CUI [1,2])
C0332307 (UMLS CUI [1,3])
C2347026 (UMLS CUI [2,1])
C0007634 (UMLS CUI [2,2])
C0449560 (UMLS CUI [2,3])
C1292533 (UMLS CUI [3,1])
C0332307 (UMLS CUI [3,2])
C1292533 (UMLS CUI [4,1])
C0449560 (UMLS CUI [4,2])
Item
Tumor status
text
C0475752 (UMLS CUI [1,1])
Code List
Tumor status
CL Item
Is not a tumor (No)
C0027651 (UMLS CUI [1,1])
C1518422 (UMLS CUI [1,2])
CL Item
Is Tumor (Yes)
C0027651 (UMLS CUI [1,1])
SEQUENCING_CENTER
Item
Sequencing center where whole genome sequencing took place - BROAD
text
C1301943 (UMLS CUI [1,1])
C5575037 (UMLS CUI [1,2])
C3640076 (UMLS CUI [1,3])
Funding_Source
Item
Funding for WGS - TOPMed
text
C0681805 (UMLS CUI [1,1])
TOPMed_Phase
Item
Phase of TOPMed - Phase 1
text
C0008972 (UMLS CUI [1,1])
C0205390 (UMLS CUI [1,2])
TOPMed_Project
Item
Name of TOPMed project - Amish
text
C2348560 (UMLS CUI [1,1])
C0238622 (UMLS CUI [1,2])
Study_Name
Item
Name of dbGaP study - Amish
text
C2348560 (UMLS CUI [1,1])
C0238622 (UMLS CUI [1,2])