ID

45892

Beschreibung

Principal Investigator: Vasan Ramachandran, Department of Medicine, Boston University School of Medicine, Boston, MA, USA MeSH: Cardiovascular Diseases,Atherosclerosis,Atrial Fibrillation,Death, Sudden, Cardiac,Diabetes Mellitus, Type 2,Heart Failure,Blood Pressure,Hypertension,Body Mass Index,Adiposity,Lipids,Pulmonary Disease, Chronic Obstructive,Renal Insufficiency, Chronic,Stroke,Osteoporosis,Risk Factors,Biological Markers,Biomarkers, Pharmacological https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000974 The Framingham Heart Study (FHS) is a prospective cohort study of 3 generations of subjects who have been followed up to 65 years to evaluate risk factors for cardiovascular disease. Its large sample of ~15,000 men and women who have been extensively phenotyped with repeated examinations make it ideal for the study of genetic associations with cardiovascular disease risk factors and outcomes. DNA samples have been collected and immortalized since the mid-1990s and are available on ~8000 study participants in 1037 families. These samples have been used for collection of GWAS array data and exome chip data in nearly all with DNA samples, and for targeted sequencing, deep exome sequencing and light coverage whole genome sequencing in limited numbers. Additionally, mRNA and miRNA expression data, DNA methylation data, metabolomics and other 'omics data are available on a sizable portion of study participants. This project will focus on deep whole genome sequencing (mean 30X coverage) in ~4100 subjects and imputed to all with GWAS array data to more fully understand the genetic contributions to cardiovascular, lung, blood and sleep disorders. Comprehensive phenotypic and pedigree data for study participants are available through dbGaP phs000007.

Link

dbGaP study = phs000974

Stichworte

  1. 01.12.23 01.12.23 - Simon Heim
Rechteinhaber

Vasan Ramachandran, Department of Medicine, Boston University School of Medicine, Boston, MA, USA

Hochgeladen am

1. Dezember 2023

DOI

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Lizenz

Creative Commons BY 4.0

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dbGaP phs000974 NHLBI TOPMed: Whole Genome Sequencing and Related Phenotypes in the Framingham Heart Study

This sample attributes table includes body site where sample was collected, analyte type, sequencing center, funding source, TOPMed phase and project, source repository where subjects originated, and sequencing control indicator.

pht004911
Beschreibung

pht004911

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

SAMPLE_ID

Datentyp

string

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

BODY_SITE

Datentyp

string

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

ANALYTE_TYPE

Datentyp

string

Alias
UMLS CUI [1,1]
C4744818
Name of the center which conducted sequencing
Beschreibung

SEQUENCING_CENTER

Datentyp

string

Alias
UMLS CUI [1,1]
C1301943
UMLS CUI [1,2]
C1294197
UMLS CUI [1,3]
C5575037
Project funding source
Beschreibung

Funding_Source

Datentyp

string

Alias
UMLS CUI [1,1]
C1709701
UMLS CUI [1,2]
C0243098
UMLS CUI [1,3]
C0449416
TOPMed_Phase
Beschreibung

TOPMed_Phase

Datentyp

text

Alias
UMLS CUI [1,1]
C0205390
UMLS CUI [1,2]
C2603343
TOPMED Project subgroup sample selected for
Beschreibung

TOPMed_Project

Datentyp

string

Alias
UMLS CUI [1,1]
C1515021
UMLS CUI [1,2]
C0370003
UMLS CUI [1,3]
C0681875
Source repository where subjects originate
Beschreibung

Study_Name

Datentyp

string

Alias
UMLS CUI [1,1]
C3847505
UMLS CUI [1,2]
C0449416
UMLS CUI [1,3]
C0681850
TRUE if sample included for control purposes, FALSE otherwise
Beschreibung

SEQUENCING_CONTROL

Datentyp

string

Alias
UMLS CUI [1,1]
C0009932

Ähnliche Modelle

This sample attributes table includes body site where sample was collected, analyte type, sequencing center, funding source, TOPMed phase and project, source repository where subjects originated, and sequencing control indicator.

Name
Typ
Description | Question | Decode (Coded Value)
Datentyp
Alias
Item Group
pht004911
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])
SEQUENCING_CENTER
Item
Name of the center which conducted sequencing
string
C1301943 (UMLS CUI [1,1])
C1294197 (UMLS CUI [1,2])
C5575037 (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
C0205390 (UMLS CUI [1,1])
C2603343 (UMLS CUI [1,2])
TOPMed_Project
Item
TOPMED Project subgroup sample selected for
string
C1515021 (UMLS CUI [1,1])
C0370003 (UMLS CUI [1,2])
C0681875 (UMLS CUI [1,3])
Study_Name
Item
Source repository where subjects originate
string
C3847505 (UMLS CUI [1,1])
C0449416 (UMLS CUI [1,2])
C0681850 (UMLS CUI [1,3])
SEQUENCING_CONTROL
Item
TRUE if sample included for control purposes, FALSE otherwise
string
C0009932 (UMLS CUI [1,1])

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