ID

45714

Descrizione

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.

collegamento

dbGaP-study=phs001211

Keywords

  1. 17/05/23 17/05/23 - Chiara Middel
Titolare del copyright

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

Caricato su

17 maggio 2023

DOI

Per favore, per richiedere un accesso.

Licenza

Creative Commons BY 4.0

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

Eligibility Criteria

Inclusion and exclusion criteria
Descrizione

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
The inclusion criteria for selection of ARIC study participants for the TOPMed Whole Genome Sequencing Project were full consent or consent for cardiovascular disease-specific research, sufficient DNA for sequencing, and unrestricted use of DNA. Inclusion and exclusion criteria for the individual phenotypes assessed in this study are described below:
Descrizione

Elig.phs001211.v4.p3.1

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0242801
UMLS CUI [1,3]
C1997894
UMLS CUI [1,4]
C0242356
UMLS CUI [1,5]
C0021430
UMLS CUI [1,6]
C0007222
UMLS CUI [1,7]
C2348235
UMLS CUI [1,8]
C0681814
UMLS CUI [1,9]
C0470187
UMLS CUI [1,10]
C0012854
UMLS CUI [1,11]
C1561491
UMLS CUI [1,12]
C3858706
UMLS CUI [1,13]
C1524063
UMLS CUI [1,14]
C0012854
UMLS CUI [2,1]
C1512693
UMLS CUI [2,2]
C0680251
UMLS CUI [2,3]
C0031437
UMLS CUI [2,4]
C0678257
A. Venous Thromboembolism project (VTE)
Descrizione

Elig.phs001211.v4.p3.2

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C1861172
UMLS CUI [1,2]
C1709701
VTE includes both deep vein thrombosis (DVT) in which a blood clot forms in a vein deep in the body, and pulmonary embolism (PE) where a blood clot travels to the lungs and blocks blood flow. Two hundred ninety-nine (299) VTE cases and 3,638 members of the comparison group were chosen for sequencing from the ARIC study. The objectively diagnosed DVT and PE cases were confirmed by venous or pulmonary imaging, pathology examination of the thrombus removed at surgery, or by autopsy.
Descrizione

Elig.phs001211.v4.p3.3

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C1861172
UMLS CUI [1,2]
C1512693
UMLS CUI [1,3]
C0149871
UMLS CUI [1,4]
C0034065
UMLS CUI [2,1]
C1265611
UMLS CUI [2,2]
C1861172
UMLS CUI [2,3]
C1698493
UMLS CUI [2,4]
C1561491
UMLS CUI [3,1]
C1265611
UMLS CUI [3,2]
C0009932
UMLS CUI [3,3]
C1561491
UMLS CUI [4,1]
C0011900
UMLS CUI [4,2]
C0149871
UMLS CUI [4,3]
C0034065
UMLS CUI [4,4]
C0750484
UMLS CUI [4,5]
C0011923
UMLS CUI [4,6]
C0332142
UMLS CUI [4,7]
C0004398
B. Identification of Common Genetic Variants for Atrial Fibrillation and PR Interval - Atrial Fibrillation Genetics Consortium (AF Gen)
Descrizione

Elig.phs001211.v4.p3.4

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0600091
UMLS CUI [1,2]
C0200898
UMLS CUI [1,3]
C0205419
UMLS CUI [1,4]
C0314603
Eighty-four (84) individuals with early-onset atrial fibrillation were selected for sequencing.
Descrizione

Elig.phs001211.v4.p3.5

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C1265611
UMLS CUI [1,2]
C0030705
UMLS CUI [1,3]
C0814120
UMLS CUI [1,4]
C0004238
UMLS CUI [1,5]
C1561491

Similar models

Eligibility Criteria

Name
genere
Description | Question | Decode (Coded Value)
Tipo di dati
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
Elig.phs001211.v4.p3.1
Item
The inclusion criteria for selection of ARIC study participants for the TOPMed Whole Genome Sequencing Project were full consent or consent for cardiovascular disease-specific research, sufficient DNA for sequencing, and unrestricted use of DNA. Inclusion and exclusion criteria for the individual phenotypes assessed in this study are described below:
boolean
C1512693 (UMLS CUI [1,1])
C0242801 (UMLS CUI [1,2])
C1997894 (UMLS CUI [1,3])
C0242356 (UMLS CUI [1,4])
C0021430 (UMLS CUI [1,5])
C0007222 (UMLS CUI [1,6])
C2348235 (UMLS CUI [1,7])
C0681814 (UMLS CUI [1,8])
C0470187 (UMLS CUI [1,9])
C0012854 (UMLS CUI [1,10])
C1561491 (UMLS CUI [1,11])
C3858706 (UMLS CUI [1,12])
C1524063 (UMLS CUI [1,13])
C0012854 (UMLS CUI [1,14])
C1512693 (UMLS CUI [2,1])
C0680251 (UMLS CUI [2,2])
C0031437 (UMLS CUI [2,3])
C0678257 (UMLS CUI [2,4])
Elig.phs001211.v4.p3.2
Item
A. Venous Thromboembolism project (VTE)
boolean
C1861172 (UMLS CUI [1,1])
C1709701 (UMLS CUI [1,2])
Elig.phs001211.v4.p3.3
Item
VTE includes both deep vein thrombosis (DVT) in which a blood clot forms in a vein deep in the body, and pulmonary embolism (PE) where a blood clot travels to the lungs and blocks blood flow. Two hundred ninety-nine (299) VTE cases and 3,638 members of the comparison group were chosen for sequencing from the ARIC study. The objectively diagnosed DVT and PE cases were confirmed by venous or pulmonary imaging, pathology examination of the thrombus removed at surgery, or by autopsy.
boolean
C1861172 (UMLS CUI [1,1])
C1512693 (UMLS CUI [1,2])
C0149871 (UMLS CUI [1,3])
C0034065 (UMLS CUI [1,4])
C1265611 (UMLS CUI [2,1])
C1861172 (UMLS CUI [2,2])
C1698493 (UMLS CUI [2,3])
C1561491 (UMLS CUI [2,4])
C1265611 (UMLS CUI [3,1])
C0009932 (UMLS CUI [3,2])
C1561491 (UMLS CUI [3,3])
C0011900 (UMLS CUI [4,1])
C0149871 (UMLS CUI [4,2])
C0034065 (UMLS CUI [4,3])
C0750484 (UMLS CUI [4,4])
C0011923 (UMLS CUI [4,5])
C0332142 (UMLS CUI [4,6])
C0004398 (UMLS CUI [4,7])
Elig.phs001211.v4.p3.4
Item
B. Identification of Common Genetic Variants for Atrial Fibrillation and PR Interval - Atrial Fibrillation Genetics Consortium (AF Gen)
boolean
C0600091 (UMLS CUI [1,1])
C0200898 (UMLS CUI [1,2])
C0205419 (UMLS CUI [1,3])
C0314603 (UMLS CUI [1,4])
Elig.phs001211.v4.p3.5
Item
Eighty-four (84) individuals with early-onset atrial fibrillation were selected for sequencing.
boolean
C1265611 (UMLS CUI [1,1])
C0030705 (UMLS CUI [1,2])
C0814120 (UMLS CUI [1,3])
C0004238 (UMLS CUI [1,4])
C1561491 (UMLS CUI [1,5])

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