cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.60645/bdc-w7ux-w9w9
title: NHLBI TOPMed: Determining the Association of Chromosomal Variants with Non-PV Triggers and Ablation-Outcome in AF (DECAF)

description: 
The DECAF trial was conducted at the Texas Cardiac Arrhythmia Institute (TCAI) in 2013 in collaboration with the University of Texas at Austin. Four hundred consecutive AF patients undergoing catheter ablation were enrolled. All participants provided voluntary informed consents. Blood samples were collected before the ablation procedure and labeled with anonymous patient identifier. The researchers at UT Austin responsible for DNA extraction and genetic analysis were blinded about the clinical characteristics and identification of the study participants. AF cases included adults &gt;18 years of age from both sex and all AF types.
DOI: 10.60645/bdc-9540-9csm
title: NHLBI TOPMed - NHGRI CCDG: The GENetics in Atrial Fibrillation (GENAF) Study

description: The Genetics in AF (GENAF) study enrolled individuals with early-onset lone AF before age 50 in Norway between 2009 and 2016. Early-onset was defined as diagnosis of AF before age 50. Lone AF was defined as AF in the absence of clinical or echocardiographic findings of cardiovascular disease, hypertension, metabolic or pulmonary disease. AF was documented in ECG. All participants underwent clinical examination, including ECG, echocardiography, and blood draw, from which DNA has been extracted. The study conforms to the principles of the Declaration of Helsinki and was approved by the Regional Ethics Committee (REK) in Norway (Protocol reference number: 2009/2224-5). All included patients gave written informed consent.
DOI: 10.60645/bdc-aoyc-n785
title: NHLBI TOPMed - NHGRI CCDG: The GENetics in Atrial Fibrillation (GENAF) Study

description: 
The Genetics in AF (GENAF) study enrolled individuals with early-onset lone AF before age 50 in Norway between 2009 and 2016. Early-onset was defined as diagnosis of AF before age 50. Lone AF was defined as AF in the absence of clinical or echocardiographic findings of cardiovascular disease, hypertension, metabolic or pulmonary disease. AF was documented in ECG. All participants underwent clinical examination, including ECG, echocardiography, and blood draw, from which DNA has been extracted. The study conforms to the principles of the Declaration of Helsinki and was approved by the Regional Ethics Committee (REK) in Norway (Protocol reference number: 2009/2224-5). All included patients gave written informed consent.
DOI: 10.60645/bdc-47kn-26b2
title: NHLBI TOPMed - NHGRI CCDG: Pakistan Risk of Myocardial Infarction Study (PROMIS)

description: 


The Pakistan Risk of Myocardial Infarction (PROMIS) study is a retrospective multicenter case-control cohort study of individuals with and without coronary heart disease from Pakistan. Multiple biological samples have been collected from the participants including DNA, plasma, serum, and whole blood. The goal of the study is to recruit 20,000 cases and 20,000 controls of Pakistani descent.

Eligible cases were individuals aged 30-80 who presented to the emergency department of a participating recruitment center in Pakistan with clinical symptoms consistent with a myocardial infarction (MI), ECG changes consistent with MI, elevated troponin levels consistent with MI, and no prior history of cardiovascular disease. Controls were individuals of Pakistani descent who did not have a self-reported history of cardiovascular disease.

This site hosts data generated *via* NHLBI's TOPMed program and NHGRI's Common Disease Genomics (CCDG) program. Both whole exome and whole genome data are presented here, namely 4,211 whole genomes from TOPMed, 3,859 whole genomes from NHLBI supplemental funds, 1,136 whole genomes and 16,855 whole exomes from CCDG. Please note that there is additional legacy whole exome data (7,298 subjects) also generated *via* NHGRI funds as part of the MIGen Exome Sequencing project that can be found in dbGaP at [phs000917](./study.cgi?study_id=phs000917).
DOI: 10.60645/bdc-zx4v-z100
title: Center for Common Disease Genomics [CCDG] - Cardiovascular ATVB: Atherosclerosis Thrombosis and Vascular Biology

description: 
Italian Atherosclerosis Thrombosis and Vascular Biology study is a prospective, nationwide, case-control study involving 125 coronary care units in Italy. The cases were patients who were hospitalised for a first MI before the age of 45 years and underwent coronary angiography. Acute MI was defined as resting chest pain lasting more than 30 minutes, accompanied by persistent electrocardiographic changes, and confirmed by an increase in total creatine kinase or in the MB fraction to more than twice the upper normal limits. The controls were healthy subjects without a history of thromboembolic disease who were unrelated to the patients, but individually matched with them by age, gender and geographical origin. They were enrolled from among the blood donors or staff of the same participating hospitals. Recruitment of cases and controls took place between 1994 and 2007.

This site hosts data from ~60 whole exomes.
DOI: 10.5281/zenodo.18504977
title: Analysis code for: Psychotropic Medication Use, Lifestyle, Genetic Risk for BMI and the Incidence of Cardiovascular Disease

description: Code and analysis scripts supporting the manuscript 'Psychotropic Medication Use, Lifestyle, Genetic Risk for BMI and the Incidence of Cardiovascular Disease'.
DOI: 10.60645/bdc-x79e-wq6g
title: NHLBI TOPMed - NHGRI CCDG: The Johns Hopkins University School of Medicine Atrial Fibrillation Genetics Study

description: Atrial fibrillation (AF), the most common sustained cardiac arrhythmia, is the primary cause of many hospital admissions, and is associated with significant secondary morbidity by increasing the risk of stroke, heart failure, and all-cause mortality. The incidence of AF is on the rise, and it is projected that by the year 2050 more than 10 million patients will be affected by AF in the United States alone. Anti-arrhythmic medications have limited success in maintaining sinus rhythm, are associated with side effects, and appear ineffective at reducing mortality compared to a strategy of rate control and anticoagulation. Given the significant morbidity associated with this common arrhythmia, surgical and catheter ablation techniques have been developed to treat AF. However, despite the incorporation of various strategies for ablation, long-term recurrence rates of AF remain higher than 25 percent after ablation. Current techniques for catheter ablation of AF include pulmonary vein isolation and complex fractionated atrial electrogram (CFAE) ablation. However, the contribution of each strategy to long-term procedural success and the relative importance of each strategy for different patients remain unknown. Recent advances in cardiac imaging have allowed detailed analysis of left atrial myocardial anatomy. Parallel advances in molecular genetics have identified several candidate genes involved in familial and non-familial AF. However, the pathophysiology of AF generation and maintenance, and the potential contribution of such genetic or anatomic substrates for patient selection, and for target identification during catheter ablation have not yet been examined. Advances in molecular genetics and imaging, coupled with techniques for endocardial and epicardial mapping in the electrophysiology laboratory present an opportunity to significantly improve our understanding of (1) The relation of paroxysmal versus persistent AF with (a) structural left atrial changes (left/right atrial scar, wall thinning, pulmonary vein anomalies, and coronary sinus dilation) and with (b) candidate genetic variants. (2) The relation of candidate genetic variants with (a) structural left atrial changes and with (b) electrophysiologic properties (atrial effective refractory period (AERP) inhomogeneity, voltage abnormalities, trigger burden and location, C FAE extent and location), (3) The relation of structural left atrial changes with (a) CFAE location as targets for catheter ablation and with (b) reversible conduction block/myocardial injury after pulmonary vein isolation, and (4) Individualized endocardial targets for AF ablation based on candidate genes and anatomic substrates. The proposed study will improve our understanding of the underlying pathophysiology of AF, and may improve current techniques for treatment of this important arrhythmia.
DOI: 10.5281/zenodo.18504976
title: Analysis code for: Psychotropic Medication Use, Lifestyle, Genetic Risk for BMI and the Incidence of Cardiovascular Disease

description: Code and analysis scripts supporting the manuscript 'Psychotropic Medication Use, Lifestyle, Genetic Risk for BMI and the Incidence of Cardiovascular Disease'.
DOI: 10.60645/bdc-czf0-2v1b
title: NHLBI TOPMed - NHGRI CCDG: The Johns Hopkins University School of Medicine Atrial Fibrillation Genetics Study

description: 
Atrial fibrillation (AF), the most common sustained cardiac arrhythmia, is the primary cause of many hospital admissions, and is associated with significant secondary morbidity by increasing the risk of stroke, heart failure, and all-cause mortality. The incidence of AF is on the rise, and it is projected that by the year 2050 more than 10 million patients will be affected by AF in the United States alone. Anti-arrhythmic medications have limited success in maintaining sinus rhythm, are associated with side effects, and appear ineffective at reducing mortality compared to a strategy of rate control and anticoagulation. Given the significant morbidity associated with this common arrhythmia, surgical and catheter ablation techniques have been developed to treat AF. However, despite the incorporation of various strategies for ablation, long-term recurrence rates of AF remain higher than 25 percent after ablation. Current techniques for catheter ablation of AF include pulmonary vein isolation and complex fractionated atrial electrogram (CFAE) ablation. However, the contribution of each strategy to long-term procedural success and the relative importance of each strategy for different patients remain unknown. Recent advances in cardiac imaging have allowed detailed analysis of left atrial myocardial anatomy. Parallel advances in molecular genetics have identified several candidate genes involved in familial and non-familial AF. However, the pathophysiology of AF generation and maintenance, and the potential contribution of such genetic or anatomic substrates for patient selection, and for target identification during catheter ablation have not yet been examined. Advances in molecular genetics and imaging, coupled with techniques for endocardial and epicardial mapping in the electrophysiology laboratory present an opportunity to significantly improve our understanding of (1) The relation of paroxysmal versus persistent AF with (a) structural left atrial changes (left/right atrial scar, wall thinning, pulmonary vein anomalies, and coronary sinus dilation) and with (b) candidate genetic variants. (2) The relation of candidate genetic variants with (a) structural left atrial changes and with (b) electrophysiologic properties (atrial effective refractory period (AERP) inhomogeneity, voltage abnormalities, trigger burden and location, C FAE extent and location), (3) The relation of structural left atrial changes with (a) CFAE location as targets for catheter ablation and with (b) reversible conduction block/myocardial injury after pulmonary vein isolation, and (4) Individualized endocardial targets for AF ablation based on candidate genes and anatomic substrates. The proposed study will improve our understanding of the underlying pathophysiology of AF, and may improve current techniques for treatment of this important arrhythmia.
DOI: 10.60645/bdc-e9l2-47d1
title: NHLBI TOPMed: Boston-Brazil Sickle Cell Disease (SCD) Cohort

description: 
This study involves sequencing of patients with a diagnosis of sickle cell disease from Brazil. No exclusionary criteria were employed and any eligible patients that consented to this study were recruited.
DOI: 10.60645/bdc-9e5s-3a2e
title: NHLBI TOPMed - NHGRI CCDG: Early-onset Atrial Fibrillation in the CATHeterization GENetics (CATHGEN) Cohort

description: 
The CATHeterization GENetics (CATHGEN) biorepository collected biospecimens and clinical data on individuals age &#8805;18 undergoing cardiac catheterization for concern of ischemic heart disease at a single center (Duke University Medical Center) from 2000-2010; a total of N=9334 individuals were collected. Samples were matched at the individual level to clinical data collected at the time of catheterization and stored in the Duke Databank for Cardiovascular Diseases (DDCD). Clinical data included subject demographics, cardiometabolic risk factors, cardiac history including symptoms, age-of-onset of cardiovascular diseases, coronary anatomy and cardiac function at catheterization, laboratory data, and yearly follow-up for hospitalizations, vital status, medication use and lifestyle factors. AF cases were defined as individuals who had ever had AF based on any ECG available at Duke University or ICD-9 code for AF used for inpatient or outpatient billing.
DOI: 10.60645/bdc-1248-e27k
title: NHLBI TOPMed - NHGRI CCDG: Penn Medicine BioBank Early Onset Atrial Fibrillation Study

description: 
Cases with early-onset atrial fibrillation were selected from the Penn Biobank based on an age of atrial fibrillation onset prior to 61 years of age, and in the absence of a myocardial infarction, heart failure or severe valvular disease.
DOI: 10.6084/m9.figshare.30746765
title: FIGURES AND TABLES CHAPTER II - PHD DISSETRATION SIMONE CALDARONI

description: FIGURES AND TABLES CHAPTER II - PHD DISSETRATION SIMONE CALDARONI
DOI: 10.60645/bdc-qep2-2394
title: NHLBI TOPMed: Children&#39;s Health Study (CHS) Integrative Genetic Approaches to Gene-Air Pollution Interactions in Asthma (GAP)

description: 
The Integrative Genetic Approaches to Gene-Air Pollution Interactions in Asthma (GAP) study was proposed to use an innovative genetics approach in mice and humans to identify novel variants that interact with traffic-related pollutant exposures to affect lung function phenotypes and the risk of childhood asthma. The study participants were enrolled from the original southern California Children's Health Study (CHS). In the TOPMed project, seven Hispanic White participants who did not have asthma history were included in the WGS analysis.
DOI: 10.6084/m9.figshare.30746765.v1
title: FIGURES AND TABLES CHAPTER II - PHD DISSETRATION SIMONE CALDARONI

description: FIGURES AND TABLES CHAPTER II - PHD DISSETRATION SIMONE CALDARONI
DOI: 10.6084/m9.figshare.30746765.v2
title: FIGURES AND TABLES CHAPTER II - PHD DISSETRATION SIMONE CALDARONI

description: FIGURES AND TABLES CHAPTER II - PHD DISSETRATION SIMONE CALDARONI
DOI: 10.60645/bdc-7byl-d5j4
title: NHLBI TOPMed: Children&#39;s Health Study (CHS) Integrative Genomics and Environmental Research of Asthma (IGERA)

description: 
The Integrative Genomics and Environmental Research of Asthma (IGERA) Study was proposed to collect immortalized cell lines, RNA, cDNA and DNA from 400 well-characterized subjects who participated in the southern California Children's Health Study (CHS) and to develop an accompanying database for these samples consisting of extensive phenotype, exposure, genome-wide genotype, gene expression, and methylation data. A subset of Hispanic-White participants (n=160) were included in the TOPMed project, including 77 asthma cases and 83 controls.
DOI: 10.60645/bdc-t478-7889
title: NHLBI TOPMed: Children&#39;s Health Study (CHS) Effects of Air Pollution on the Development of Obesity in Children (Meta-AIR)

description: 
The Effects of Air Pollution on the Development of Obesity in Children (Meta-AIR) study was proposed to study a subset of the Children's Health Study (CHS) participants representing the extremes of long-term traffic-related air pollution exposure occurring in Southern California CHS communities. The primary aim of the Meta-AIR study was to investigate whether lifetime exposure to air pollution increases risk for obesity and metabolic dysfunction at 17-18 years of age. A total of 56 Hispanic White participants (16 asthma cases and 40 controls) were included in the TOPMed project.
DOI: 10.60645/bdc-z41x-88b6
title: NHLBI TOPMed: Chicago Initiative to Raise Asthma Health Equity (CHIRAH)

description: 
The CHIRAH project was a community-based study of the factors associated with asthma morbidity in the African American population. CHIRAH evaluated the role of various variables (biologic/environmental, psychologic/behavioral, and socioeconomic) on asthma morbidity and the function of changes in these variables on asthma morbidity in a longitudinal fashion. This involved collection of a cohort-based on school screening which was sampled to include similar numbers of underprivileged and non-underprivileged subjects which roughly equally represented self-reported African Americans and self-reported non-African Americans. Subjects were followed up every 3 months of this cohort over the course of 2 years.
DOI: 10.60645/bdc-98p3-7o07
title: NHLBI TOPMed: Chicago Initiative to Raise Asthma Health Equity (CHIRAH)

description: 
The CHIRAH project was a community-based study of the factors associated with asthma morbidity in the African American population. CHIRAH evaluated the role of various variables (biologic/environmental, psychologic/behavioral, and socioeconomic) on asthma morbidity and the function of changes in these variables on asthma morbidity in a longitudinal fashion. This involved collection of a cohort-based on school screening which was sampled to include similar numbers of underprivileged and non-underprivileged subjects which roughly equally represented self-reported African Americans and self-reported non-African Americans. Subjects were followed up every 3 months of this cohort over the course of 2 years.
DOI: 10.60645/bdc-7564-d06k
title: NHLBI TOPMed: Early-Onset Atrial Fibrillation in the Estonian Biobank

description: The Estonian Biobank is the population-based biobank of the Estonian Genome Centre of University of Tartu. The biobank is conducted according to the Estonian Gene Research Act and all participants have signed broad informed consent. The cohort size is currently 51,535 people from 18 years of age and up.
DOI: 10.60645/bdc-6iy1-hf20
title: NHLBI TOPMed: Early-Onset Atrial Fibrillation in the Estonian Biobank

description: 
The Estonian Biobank is the population-based biobank of the Estonian Genome Centre of University of Tartu. The biobank is conducted according to the Estonian Gene Research Act and all participants have signed broad informed consent. The cohort size is currently 51,535 people from 18 years of age and up.
DOI: 10.60645/bdc-y837-0sjc
title: NHLBI TOPMed: Pulmonary Fibrosis Whole Genome Sequencing

description: 
This is a set of cases diagnosed with idiopathic pulmonary fibrosis, a fatal interstitial lung disease. These cases were included in the TOPMed phase three studies. The planned study will compare these cases to within-TOPMed controls for genome-wide association studies.
DOI: 10.15468/dl.afwegr
title: Occurrence Download

description: A dataset containing 1379 species occurrences available in GBIF matching the query:
{
 "and" : [
 "Country is France",
 "HasCoordinate is true",
 "HasGeospatialIssue is false",
 "PublishingOrg is one of (1928bdf0-f5d2-11dc-8c12-b8a03c50a862, 28eb1a3f-1c15-4a95-931a-4af90ecb574d)",
 "TaxonKey is Aedes albopictus",
 "Year 2000-2025"
 ]
}

 The dataset includes 1379 records from 95 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0016306-260129131611470/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.60645/bdc-n3sq-7h6e
title: NHLBI TOPMed: Pulmonary Fibrosis Whole Genome Sequencing

description: 
This is a set of cases diagnosed with idiopathic pulmonary fibrosis, a fatal interstitial lung disease. These cases were included in the TOPMed phase three studies. The planned study will compare these cases to within-TOPMed controls for genome-wide association studies.
DOI: 10.60645/bdc-k701-mhbc
title: NHLBI TOPMed: Pulmonary Fibrosis Whole Genome Sequencing

description: 
This is a set of cases diagnosed with idiopathic pulmonary fibrosis, a fatal interstitial lung disease. These cases were included in the TOPMed phase three studies. The planned study will compare these cases to within-TOPMed controls for genome-wide association studies.
DOI: 10.60645/bdc-3461-wl77
title: NHLBI TOPMed: Pulmonary Fibrosis Whole Genome Sequencing

description: 
This is a set of cases diagnosed with idiopathic pulmonary fibrosis, a fatal interstitial lung disease. These cases were included in the TOPMed phase three studies. The planned study will compare these cases to within-TOPMed controls for genome-wide association studies.
DOI: 10.60645/bdc-2g2m-mg5c
title: NHLBI TOPMed: Pulmonary Fibrosis Whole Genome Sequencing

description: 
This is a set of cases diagnosed with idiopathic pulmonary fibrosis, a fatal interstitial lung disease. These cases were included in the TOPMed phase three studies. The planned study will compare these cases to within-TOPMed controls for genome-wide association studies.
DOI: 10.60645/bdc-z92s-5btt
title: NHLBI TOPMed: Pulmonary Fibrosis Whole Genome Sequencing

description: 
This is a set of cases diagnosed with idiopathic pulmonary fibrosis, a fatal interstitial lung disease. These cases were included in the TOPMed phase three studies. The planned study will compare these cases to within-TOPMed controls for genome-wide association studies.
DOI: 10.15468/dl.7rnkgb
title: Occurrence Download

description: A dataset containing 7 species occurrences available in GBIF matching the query:
{
 "and" : [
 "TaxonKey is Pseudophoenix vinifera",
 "HasCoordinate is true",
 "BasisOfRecord is one of (Specimen)"
 ]
}

 The dataset includes 7 records from 4 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0016307-260129131611470/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.18150/8m8jz1
title: Results of a study on the efficacy of antimicrobial photodynamic therapy of a functionalised combination of Chlorin e6 and efflux pump inhibitor against Escherichia coli and Bacillus cereus

description: This dataset contains data used in a paper entitled 'Plant-derived efflux pump inhibitors potentiate Chlorin e6-based antimicrobial photodynamic therapy against Bacillus cereus and Escherichia coli', which was published in the Biochemical and Biophysical Research Communications (https://doi.org/10.1016/j.bbrc.2025.153214).The included data comprise measurements that were funded by OPUS grant 2021/41/B/ST7/04002, awarded by the National Science Centre, in the form of images obtained using holographic digital tomography. Sample designations used in this document: PS- (without photosensitizer), Ce6 (Chlorin e6), BER (Berberine Hydrochloride + Chlorin e6), CAP (Capsaicin + Chlorin e6), COU (Coumarin 6 + Chlorin e6), CUR (Curcumin + Chlorin e6), PAL (Palmatine + Chlorin e6), PIP (Piperine +Chlorin e6), for each combination there were samples after 24 hours of incubation (24h), photoexcited (hν+) and dark-control (hν-) samples. STEVE software is required to open the files.
DOI: 10.60645/bdc-2j11-1784
title: NHLBI TOPMed: Pulmonary Fibrosis Whole Genome Sequencing

description: 
This is a set of cases diagnosed with idiopathic pulmonary fibrosis, a fatal interstitial lung disease. These cases were included in the TOPMed phase three studies. The planned study will compare these cases to within-TOPMed controls for genome-wide association studies.
DOI: 10.60645/bdc-pc31-cn11
title: NHLBI TOPMed: Pulmonary Fibrosis Whole Genome Sequencing

description: 
This is a set of cases diagnosed with idiopathic pulmonary fibrosis, a fatal interstitial lung disease. These cases were included in the TOPMed phase three studies. The planned study will compare these cases to within-TOPMed controls for genome-wide association studies.