ID

45714

Description

Principal Investigator: Eric Boerwinkle, PhD, Human Genetics Center, University of Texas Health Science Center at Houston, Houston, TX, USA MeSH: Cardiovascular Diseases,Thromboembolism,Venous Thromboembolism,Arrhythmias, Cardiac,Atrial Fibrillation https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001211 Participants from the Atherosclerosis Risk in Communities (ARIC) Study, a large population-based longitudinal cohort study, have been included in this Project and whole genome sequencing will be performed to contribute to analyses of early-onset atrial fibrillation and venous thromboembolism. Additional phenotype and genotype data are available for these individuals on dbGaP and can be accessed through the parent ARIC Cohort accession (phs000280). The National Heart, Lung and Blood Institute (NHLBI) Trans-Omics for Precision Medicine (TOPMed) program is designed to generate scientific resources to enhance understanding of fundamental biological processes that underlie heart, lung, blood and sleep disorders (HLBS). It is part of a broader Precision Medicine Initiative, which aims to provide disease treatments that are tailored to an individual's unique genes and environment. TOPMed will contribute to this initiative through the integration of whole genome sequencing (WGS) and other -omics (e.g., metabolic profiles, protein and RNA expression patterns) data with molecular, behavioral, imaging, environmental, and clinical data. In doing so, this program seeks to uncover factors that increase or decrease the risk of disease, identify subtypes of disease, and develop more targeted and personalized treatments. The Whole Genome Sequencing (WGS) Project is part of NHLBI's TOPMed program and serves as an initial step for the larger initiative.

Link

dbGaP-study=phs001211

Keywords

  1. 5/17/23 5/17/23 - Chiara Middel
Copyright Holder

Eric Boerwinkle, PhD, Human Genetics Center, University of Texas Health Science Center at Houston, Houston, TX, USA

Uploaded on

May 17, 2023

DOI

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License

Creative Commons BY 4.0

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dbGaP phs001211 NHLBI TOPMed - NHGRI CCDG: Atherosclerosis Risk in Communities (ARIC)

This sample attributes data table includes body site where sample was collected, analyte type, tumor status, sequencing center, funding source, TOPMed phase, project and study name, venous thrombus embolism group, cardiovascular disease group, and sample aliases.

pht005757
Description

pht005757

Alias
UMLS CUI [1,1]
C3846158
De-identified Sample ID
Description

Collected in Exam 1

Data type

string

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

Collected in Exam 1

Data type

string

Alias
UMLS CUI [1,1]
C0449705
Analyte type
Description

Collected in Exam 1

Data type

string

Alias
UMLS CUI [1,1]
C4744818
Tumor status
Description

Collected in Exam 1

Data type

text

Alias
UMLS CUI [1,1]
C0475752
Name of the center which conducted sequencing
Description

Collected in Exam 1

Data type

string

Alias
UMLS CUI [1,1]
C1301943
UMLS CUI [1,2]
C0565990
UMLS CUI [1,3]
C1561491
Project funding source
Description

Collected in Exam 1

Data type

string

Alias
UMLS CUI [1,1]
C1709701
UMLS CUI [1,2]
C0243098
UMLS CUI [1,3]
C0449416
TOPMed Phase
Description

Collected in Exam 1

Data type

text

Alias
UMLS CUI [1,1]
C0242356
UMLS CUI [1,2]
C0205390
TOPMed Project that funded sequencing
Description

Collected in Exam 1

Data type

string

Alias
UMLS CUI [1,1]
C0242356
UMLS CUI [1,2]
C1709701
UMLS CUI [1,3]
C0243098
UMLS CUI [1,4]
C1561491
TOPMed-assigned short study name (1:1 with TOPMed phs number)
Description

Collected in Exam 1

Data type

string

Alias
UMLS CUI [1,1]
C0242356
UMLS CUI [1,2]
C1806781
UMLS CUI [1,3]
C2348560
Venous thrombus embolism group
Description

Collected in Exam 1

Data type

text

Alias
UMLS CUI [1,1]
C0042487
UMLS CUI [1,2]
C0441833
Cardiovascular disease group
Description

Collected in Exam 1

Data type

text

Alias
UMLS CUI [1,1]
C0007222
UMLS CUI [1,2]
C0441833
De-identified CCDG Sample ID
Description

Collected in Exam 1

Data type

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C1299222

Similar models

This sample attributes data table includes body site where sample was collected, analyte type, tumor status, sequencing center, funding source, TOPMed phase, project and study name, venous thrombus embolism group, cardiovascular disease group, and sample aliases.

Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht005757
C3846158 (UMLS CUI [1,1])
SAMPLE_ID
Item
De-identified Sample ID
string
C4684638 (UMLS CUI [1,1])
C1299222 (UMLS CUI [1,2])
BODY_SITE
Item
Body site where sample was collected
string
C0449705 (UMLS CUI [1,1])
ANALYTE_TYPE
Item
Analyte type
string
C4744818 (UMLS CUI [1,1])
Item
Tumor status
text
C0475752 (UMLS CUI [1,1])
Code List
Tumor status
CL Item
Is not a tumor (N)
C0027651 (UMLS CUI [1,1])
C1518422 (UMLS CUI [1,2])
SEQUENCING_CENTER
Item
Name of the center which conducted sequencing
string
C1301943 (UMLS CUI [1,1])
C0565990 (UMLS CUI [1,2])
C1561491 (UMLS CUI [1,3])
Funding_Source
Item
Project funding source
string
C1709701 (UMLS CUI [1,1])
C0243098 (UMLS CUI [1,2])
C0449416 (UMLS CUI [1,3])
TOPMed_Phase
Item
TOPMed Phase
text
C0242356 (UMLS CUI [1,1])
C0205390 (UMLS CUI [1,2])
TOPMed_Project
Item
TOPMed Project that funded sequencing
string
C0242356 (UMLS CUI [1,1])
C1709701 (UMLS CUI [1,2])
C0243098 (UMLS CUI [1,3])
C1561491 (UMLS CUI [1,4])
Study_Name
Item
TOPMed-assigned short study name (1:1 with TOPMed phs number)
string
C0242356 (UMLS CUI [1,1])
C1806781 (UMLS CUI [1,2])
C2348560 (UMLS CUI [1,3])
Item
Venous thrombus embolism group
text
C0042487 (UMLS CUI [1,1])
C0441833 (UMLS CUI [1,2])
Code List
Venous thrombus embolism group
CL Item
In venous thrombus embolism comparison group (0)
CL Item
In venous thrombus embolism case group (1)
CL Item
not applicable, not in TOPMed VTE or AFGen Project (NA)
C1272460 (UMLS CUI [1,1])
Item
Cardiovascular disease group
text
C0007222 (UMLS CUI [1,1])
C0441833 (UMLS CUI [1,2])
Code List
Cardiovascular disease group
CL Item
in cardiovascular disease group (1)
CL Item
not applicable, not funded by CCDG (NA)
C1272460 (UMLS CUI [1,1])
CCDG_SAMPLE_ID
Item
De-identified CCDG Sample ID
string
C4684638 (UMLS CUI [1,1])
C1299222 (UMLS CUI [1,2])

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