cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.60645/bdc-4px1-60p1
title: NHLBI TOPMed: Genomic Activities such as Whole Genome Sequencing and Related Phenotypes in the Framingham Heart Study

description: 
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 participants and imputed to all with GWAS array data to more fully understand the genetic contributions to cardiovascular, lung, blood and sleep disorders. Also available are aptamer proteomic profiling, RNAseq and 850K array DNA methylation data that predominantly overlap with participants with WGS data.

Comprehensive phenotypic and pedigree data for study participants are available through dbGaP [phs000007](./study.cgi?study_id=phs000007).
DOI: 10.60645/bdc-76k4-2wgb
title: NHLBI TOPMed: Genomic Activities such as Whole Genome Sequencing and Related Phenotypes in the Framingham Heart Study

description: 
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 participants and imputed to all with GWAS array data to more fully understand the genetic contributions to cardiovascular, lung, blood and sleep disorders. Also available are aptamer proteomic profiling, RNAseq and 850K array DNA methylation data that predominantly overlap with participants with WGS data.

Comprehensive phenotypic and pedigree data for study participants are available through dbGaP [phs000007](./study.cgi?study_id=phs000007).
DOI: 10.60645/bdc-gay0-5roq
title: NHLBI TOPMed: Genomic Activities such as Whole Genome Sequencing and Related Phenotypes in the Framingham Heart Study

description: 
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 participants and imputed to all with GWAS array data to more fully understand the genetic contributions to cardiovascular, lung, blood and sleep disorders. Also available are aptamer proteomic profiling, RNAseq and 850K array DNA methylation data that predominantly overlap with participants with WGS data.

Comprehensive phenotypic and pedigree data for study participants are available through dbGaP [phs000007](./study.cgi?study_id=phs000007).
DOI: 10.15468/dl.62xbkd
title: Occurrence Download

description: A dataset listing the 5 species recorded in GBIF matching the query:
{
 "DatasetKey" : [
 "is Inventaires Aéro Biodiversité - LFGI - Dijon Darois-Inventaires Aéro Biodiversité - LFGI - Point d'EPOC 4"
 ]
}

 The dataset's 5 records were derived from 1 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0016295-260129131611470/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.60645/bdc-2895-vdjw
title: NHLBI TOPMed: The Genetic Epidemiology of Asthma in Costa Rica

description: 
**This administrative supplement to the project, "The Genetic Epidemiology of Asthma in Costa Rica" (R37 HL066289) is in response to NOT-HL-14-029 to perform whole genome sequencing (WGS) on existing NHLBI populations. We focus on asthma because of its public health significance.** Asthma affects 26 million U.S. children and adults, remains a major cause of morbidity (one-half million hospitalizations a year) and is the most common cause of school and work days lost. Asthma-related costs are estimated to be over $12.7 billion annually. The Asthma Probands for both the extended pedigrees and the trios utilized in this study were selected on the basis of a physician diagnosis of asthma; a history of recurrent asthma attacks or at least 2 respiratory symptoms; and either airway hyperresponsiveness to methacholine or significant response to bronchodilator (Albuterol) administration. These criteria are identical to the criteria used in the Childhood Asthma Management Program (CAMP).

**The three primary goals of this project are to: (1) identify common and rare genetic variants that determine asthma and its associated phenotypes (height, weight, IgE level, lung function, bronchodilator response, steroid treatment response) through whole genome sequencing (WGS); (2) perform novel family based association analysis of our WGS data to identify novel genes for asthma; and (3) integrate epigenomic and transcriptomic data with our WGS data and determine the epistatic interactions present using systems genomics approaches.** Identification of the molecular determinants of asthma remains an important priority in translational science. Genome-wide association studies (GWAS) have been successful in this regard, identifying at least 10 novel susceptibility genes for asthma. However, as with most complex traits, the variants identified by GWAS explain only a fraction of the estimated heritability of this disorder. **Herein, we propose a novel family-based study design and state-of-the-art genome sequencing techniques to map a set of sequence variants for asthma and its associated phenotypes and assess the interrelationships of the identified genes and variants using systems genomics methods.** We have assembled a team of investigators highly-skilled and expert in whole genome sequencing (Drs. Michael Cho and Benjamin Raby), genetic association analysis (Drs. Scott T. Weiss, Jessica Lasky-Su and Christoph Lange), integrative genomics (Drs. Raby, Kelan Tantisira, Augusto Litonjua and Dawn DeMeo), and systems genomics (Drs. Weiss, Amitabh Sharma, Lange and Raby) to address this important problem with both a novel study design and data set.
DOI: 10.60645/bdc-y116-9804
title: NHLBI TOPMed: The Genetic Epidemiology of Asthma in Costa Rica

description: 
**This administrative supplement to the project, "The Genetic Epidemiology of Asthma in Costa Rica" (R37 HL066289) is in response to NOT-HL-14-029 to perform whole genome sequencing (WGS) on existing NHLBI populations. We focus on asthma because of its public health significance.** Asthma affects 26 million U.S. children and adults, remains a major cause of morbidity (one-half million hospitalizations a year) and is the most common cause of school and work days lost. Asthma-related costs are estimated to be over $12.7 billion annually. The Asthma Probands for both the extended pedigrees and the trios utilized in this study were selected on the basis of a physician diagnosis of asthma; a history of recurrent asthma attacks or at least 2 respiratory symptoms; and either airway hyperresponsiveness to methacholine or significant response to bronchodilator (Albuterol) administration. These criteria are identical to the criteria used in the Childhood Asthma Management Program (CAMP).

**The three primary goals of this project are to: (1) identify common and rare genetic variants that determine asthma and its associated phenotypes (height, weight, IgE level, lung function, bronchodilator response, steroid treatment response) through whole genome sequencing (WGS); (2) perform novel family based association analysis of our WGS data to identify novel genes for asthma; and (3) integrate epigenomic and transcriptomic data with our WGS data and determine the epistatic interactions present using systems genomics approaches.** Identification of the molecular determinants of asthma remains an important priority in translational science. Genome-wide association studies (GWAS) have been successful in this regard, identifying at least 10 novel susceptibility genes for asthma. However, as with most complex traits, the variants identified by GWAS explain only a fraction of the estimated heritability of this disorder. **Herein, we propose a novel family-based study design and state-of-the-art genome sequencing techniques to map a set of sequence variants for asthma and its associated phenotypes and assess the interrelationships of the identified genes and variants using systems genomics methods.** We have assembled a team of investigators highly-skilled and expert in whole genome sequencing (Drs. Michael Cho and Benjamin Raby), genetic association analysis (Drs. Scott T. Weiss, Jessica Lasky-Su and Christoph Lange), integrative genomics (Drs. Raby, Kelan Tantisira, Augusto Litonjua and Dawn DeMeo), and systems genomics (Drs. Weiss, Amitabh Sharma, Lange and Raby) to address this important problem with both a novel study design and data set.
DOI: 10.60645/bdc-8lyl-d67j
title: MIGen_ExS: University of Lubeck

description: 
MI cases were recruited from the German MI Family Study and the Angio-Lub study.

Controls were recruited from the German MI Family Study and the Angio-Lub study.

All exome sequencing was performed at the Broad Institute of Harvard and MIT; samples sequence capture was performed using Illumina&#39;s ICE Capture reagent and sequencing was performed on an Illumina HiSeq 2000 or 2500.
DOI: 10.60645/bdc-31r6-k912
title: NHLBI TOPMed: Heart and Vascular Health Study (HVH)

description: 
**Objectives**<br> The Heart and Vascular Health Study (HVH) is a case-control study of risk factors for the development of myocardial infarction (MI), stroke, venous thrombosis (VT), and atrial fibrillation (AF). The study setting is Group Health, an integrated health care delivery system in Washington State. Only VT cases and early-onset AF cases are included as part of TOPMed.

**Background**<br> The HVH study originated in 1988 with the examination of risk factors for MI. Over the ensuing years, the study has been funded by a series of grants which have added case subjects with stroke, VT, and AF. Study aims focused on the associations of medication use with cardiovascular events, and starting in 1997, the study aims expanded to include genetic associations with cardiovascular disease. Participants recruited in 2009 or later who provided blood samples for genetic analysis were asked for consent to deposit genetic and phenotypic data in dbGaP.

**Design**<br> As part of the HVH study, case subjects were identified by searching for ICD-9 codes consistent with MI, stroke, VT, or AF, and medical records were reviewed to confirm the diagnosis. Control subjects were identified at random from the Group Health enrollment and were matched to MI cases. All subjects have an index date. For cases, the index date was assigned as the date that the cardiovascular event (MI, stroke, VT, or AF) came to clinical attention. For controls, the index date was a random date within the range of the case index dates. For both cases and controls, information was collected from the inpatient and outpatient medical record, by telephone interview with consenting survivors, and from the Group Health pharmacy and laboratory databases. Consenting participants provided a blood specimen.

**Subjects**<br> Only VT and early-onset AF cases from HVH are included in TOPMed. Within the HVH study, VT and AF cases were diagnosed in both inpatient and outpatient settings, and only incident cases are eligible for inclusion in TOPMed.

**Genetic Research**<br> Genetic factors underlying cardiovascular disease are studied using DNA isolated from the blood samples.

Phenotype data for HVH study participants are available through dbGaP [phs001013](./study.cgi?study_id=phs001013).
DOI: 10.60645/bdc-708k-7vi6
title: NHLBI TOPMed: Heart and Vascular Health Study (HVH)

description: 
**Objectives**<br> The Heart and Vascular Health Study (HVH) is a case-control study of risk factors for the development of myocardial infarction (MI), stroke, venous thrombosis (VT), and atrial fibrillation (AF). The study setting is Group Health, an integrated health care delivery system in Washington State. Only VT cases and early-onset AF cases are included as part of TOPMed.

**Background**<br> The HVH study originated in 1988 with the examination of risk factors for MI. Over the ensuing years, the study has been funded by a series of grants which have added case subjects with stroke, VT, and AF. Study aims focused on the associations of medication use with cardiovascular events, and starting in 1997, the study aims expanded to include genetic associations with cardiovascular disease. Participants recruited in 2009 or later who provided blood samples for genetic analysis were asked for consent to deposit genetic and phenotypic data in dbGaP.

**Design**<br> As part of the HVH study, case subjects were identified by searching for ICD-9 codes consistent with MI, stroke, VT, or AF, and medical records were reviewed to confirm the diagnosis. Control subjects were identified at random from the Group Health enrollment and were matched to MI cases. All subjects have an index date. For cases, the index date was assigned as the date that the cardiovascular event (MI, stroke, VT, or AF) came to clinical attention. For controls, the index date was a random date within the range of the case index dates. For both cases and controls, information was collected from the inpatient and outpatient medical record, by telephone interview with consenting survivors, and from the Group Health pharmacy and laboratory databases. Consenting participants provided a blood specimen.

**Subjects**<br> Only VT and early-onset AF cases from HVH are included in TOPMed. Within the HVH study, VT and AF cases were diagnosed in both inpatient and outpatient settings, and only incident cases are eligible for inclusion in TOPMed.

**Genetic Research**<br> Genetic factors underlying cardiovascular disease are studied using DNA isolated from the blood samples.

Phenotype data for HVH study participants are available through dbGaP [phs001013](./study.cgi?study_id=phs001013).
DOI: 10.60645/bdc-0965-3cz0
title: NHLBI TOPMed - NHGRI CCDG: The Vanderbilt AF Ablation Registry

description: 
The Vanderbilt Atrial Fibrillation Ablation Registry (VAFAR) was founded in 2011. Patients with AF referred for AF ablation are prospectively enrolled. A detailed clinical history is recorded, along with imaging data (cardiac MRI or CT). Blood samples are obtained for DNA extraction at the time of ablation. Details of the ablation procedure are recorded. Patients are longitudinally followed to monitor for AF recurrence. VAFAR contributed 171 samples submitted to dbGaP for WGS: 115 were from male subjects, of which 113 were white/non-Hispanic and 2 were Hispanic; 56 were from females, of which all 56 were white/non-Hispanic.
DOI: 10.60645/bdc-0z47-qg1a
title: Transcriptome Profile of Endothelial Cells in PAH Patients vs Controls

description: 
The transcriptome of pulmonary arterial endothelial cells from healthy lungs and from lungs of patients with idiopathic pulmonary arterial hypertension have been analyzed and specific differences in disease-relevant pathways were identified. The genes identified as altered in these patients have direct effects on pulmonary arterial endothelial cell function. This finding may underlie the inability of the pulmonary vasculature to respond to and repair the damage observed in pulmonary hypertension.
DOI: 10.60645/bdc-o17m-94k3
title: MGH Atrial Fibrillation Study

description: 
The Massachusetts General Hospital (MGH) Atrial Fibrillation Study was initiated in 2001. The study has enrolled serial probands, unaffected and affected family members with atrial fibrillation. At enrollment participants undergo a structured interview to systematically capture their past medical history, AF treatments, and family history. An electrocardiogram is performed; the results of an echocardiogram are obtained; and blood samples are obtained.

**The Massachusetts General Hospital (MGH) Atrial Fibrillation Study is utilized in the following dbGaP substudies.** To view genotypes, analysis, other molecular data, and derived variables collected in these substudies, please click on the following substudies below or in the "Substudies" section of this top-level study page phs001001 Massachusetts General Hospital (MGH) Atrial Fibrillation Study.  - [phs001116](./study.cgi?study_id=phs001116) MGH AF CHARGE-S - [phs001117](./study.cgi?study_id=phs001117) MGH AF Exome Sequencing - [phs001118](./study.cgi?study_id=phs001118) MGH AF Medical Resequencing
DOI: 10.60645/bdc-fr64-hwgd
title: MGH Atrial Fibrillation Study

description: 
The Massachusetts General Hospital (MGH) Atrial Fibrillation Study was initiated in 2001. The study has enrolled serial probands, unaffected and affected family members with atrial fibrillation. At enrollment participants undergo a structured interview to systematically capture their past medical history, AF treatments, and family history. An electrocardiogram is performed; the results of an echocardiogram are obtained; and blood samples are obtained.

**The Massachusetts General Hospital (MGH) Atrial Fibrillation Study is utilized in the following dbGaP substudies.** To view genotypes, analysis, other molecular data, and derived variables collected in these substudies, please click on the following substudies below or in the "Substudies" section of this top-level study page phs001001 Massachusetts General Hospital (MGH) Atrial Fibrillation Study.  - [phs001116](./study.cgi?study_id=phs001116) MGH AF CHARGE-S - [phs001117](./study.cgi?study_id=phs001117) MGH AF Exome Sequencing - [phs001118](./study.cgi?study_id=phs001118) MGH AF Medical Resequencing
DOI: 10.60645/bdc-8176-j0qi
title: The Diabetes Heart Study (DHS)

description: 
The Diabetes Heart Study is a family based study enriched for type 2 diabetes (T2D). The cohort included 1220 self-reported European Americans from 475 families (Bowden et al 2010 Review of Diabetic Studies 7:188-201: [PMID: 21409311](http://www.ncbi.nlm.nih.gov/pubmed/?term=21409311); Bowden et al 2008 Annals of Human Genetics 72:598-601 [PMID: 18460048](http://www.ncbi.nlm.nih.gov/pubmed/?term=18460048)) and included siblings concordant for T2D; where possible unaffected siblings were also recruited. The cohort was recruited between 1998 and 2006. Participants were extensively phenotyped for measures of subclinical CVD and other known CVD risk factors. Primary outcomes were quantified burden of vascular calcified plaque in the coronary artery, carotid artery and abdominal aorta all determined from non-contrast computed tomography scans.
DOI: 10.60645/bdc-58ly-67r4
title: Heart and Vascular Health Study (HVH)

description: 
**Objectives**<br/> The Heart and Vascular Health Study (HVH) is a case-control study of risk factors for the development of myocardial infarction (MI), stroke, venous thrombosis (VT), and atrial fibrillation (AF). The study setting is Group Health, an integrated health care delivery system in Washington State.

**Background**<br/> The HVH originated in 1988 with the examination of risk factors for MI. Over the ensuing years, the study has been funded by a series of grants, which have added case subjects with stroke, VT, and AF, and used a common control group. Study aims have focused on the associations of medication use with cardiovascular events. Starting in 1997, the study aims expanded to include genetic associations with cardiovascular disease. Participants recruited in 2009 or later and who provided blood samples for genetic analysis were asked for consent to deposit genetic and phenotype data in dbGaP.

**Design**<br/> As part of the HVH study, case subjects were identified by searching for ICD-9 codes consistent with MI, stroke, VT, or AF, and medical records were reviewed to confirm the diagnosis. Control subjects were identified at random from the Group Health enrollment and were matched to MI cases. All subjects have an index date. For cases, the index date was assigned as the date that the cardiovascular event (MI, stroke, VT, or AF) came to clinical attention. For controls, the index date was a random date within the range of the case index dates. For both cases and controls, information was collected from the inpatient and outpatient medical record, by telephone interview with consenting survivors, and from the Group Health pharmacy and laboratory databases. Consenting participants provided a blood specimen.

**Genetic Research**<br/> Genetic factors underlying cardiovascular disease are studied using DNA isolated from the blood samples.