ID

45249

Descripción

Principal Investigator: Stacey Gabriel, Broad Institute, Cambridge, MA, USA MeSH: Myocardial Infarction https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000279 The NHLBI "Grand Opportunity" Exome Sequencing Project (GO-ESP), a signature project of the NHLBI Recovery Act investment, was designed to identify genetic variants in coding regions (exons) of the human genome (the "exome") that are associated with heart, lung and blood diseases. These and related diseases that are of high impact to public health and individuals from diverse racial and ethnic groups will be studied. These data may help researchers understand the causes of disease, contributing to better ways to prevent, diagnose, and treat diseases, as well as determine whether to tailor prevention and treatments to specific populations. This could lead to more effective treatments and reduce the likelihood of side effects. GO-ESP is comprised of five collaborative components: 3 cohort consortia - HeartGO, LungGO, and WHISP - and 2 sequencing centers - BroadGO and SeattleGO. In the Grand Opportunities Exome Sequencing Program Early MI Project (GO ESP - EOMI), we are sequencing cases with extremely early-onset MI drawn from 8 cohorts. These cohorts include five hospital or community-based studies that ascertained individuals based on MI status. These include PennCATH, Cleveland Clinic Genebank, Massachusetts General Hospital Premature Coronary Artery Disease Study (MGH-PCAD), Heart Attack Risk in Puget Sound (HARPS), and Translational Research Investigating Underlying Disparities in Myocardial Infarction Patients' Health Status (TRIUMPH). Cases were selected based on MI occurring in men aged ≤50 years and women aged ≤60 years. In addition, early-MI cases are being drawn from three population-cohort studies including the Framingham Heart Study, the Women's Health Initiative, and the Atherosclerosis Risk in Communities Study. MI-free controls are being drawn from five population-based cohort studies including the Framingham Heart Study, the Women's Health Initiative, Atherosclerosis Risk in Communities Study, Cardiovascular Health Study, and the Jackson Heart Study. Controls were selected based on two factors: (1) highest predicted risk for MI based on Framingham risk score; and (2) absence of prevalent or incident MI despite a high predicted risk.

Link

dbGaP study = phs000279

Palabras clave

  1. 4/7/22 4/7/22 - Chiara Middel
  2. 12/10/22 12/10/22 - Adrian Schulz
Titular de derechos de autor

Stacey Gabriel, Broad Institute, Cambridge, MA, USA

Subido en

12 de octubre de 2022

DOI

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Licencia

Creative Commons BY 4.0

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dbGaP phs000279 NHLBI GO-ESP: Early-Onset Myocardial Infarction (Broad EOMI)

This data table contains the mapping of subject IDs to sample IDs and sample use.

pht001436
Descripción

pht001436

Subject ID
Descripción

SUBJID

Tipo de datos

string

Alias
UMLS CUI [1,1]
C2348585
Sample ID
Descripción

SAMPID

Tipo de datos

string

Alias
UMLS CUI [1,1]
C1299222
Sample Use. Seq_DNA_SNP: SNP genotypes derived from sequence data; Seq_DNA_SNP_CNV: SNP and CNV genotypes derived from sequence data; Seq_DNA_WholeExome: Whole exome sequencing
Descripción

SAMPLE_USE

Tipo de datos

text

Alias
UMLS CUI [1,1]
C1524063
UMLS CUI [1,2]
C2347026
UMLS CUI [2,1]
C0752046
UMLS CUI [2,2]
C0017431
UMLS CUI [3,1]
C0752046
UMLS CUI [3,2]
C0017431
UMLS CUI [3,3]
C3846158
UMLS CUI [4,1]
C3640077

Similar models

This data table contains the mapping of subject IDs to sample IDs and sample use.

Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de datos
Alias
Item Group
pht001436
SUBJID
Item
Subject ID
string
C2348585 (UMLS CUI [1,1])
SAMPID
Item
Sample ID
string
C1299222 (UMLS CUI [1,1])
SAMPLE_USE
Item
Sample Use. Seq_DNA_SNP: SNP genotypes derived from sequence data; Seq_DNA_SNP_CNV: SNP and CNV genotypes derived from sequence data; Seq_DNA_WholeExome: Whole exome sequencing
text
C1524063 (UMLS CUI [1,1])
C2347026 (UMLS CUI [1,2])
C0752046 (UMLS CUI [2,1])
C0017431 (UMLS CUI [2,2])
C0752046 (UMLS CUI [3,1])
C0017431 (UMLS CUI [3,2])
C3846158 (UMLS CUI [3,3])
C3640077 (UMLS CUI [4,1])

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