cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.60645/bdc-1i1s-2068
title: NHLBI TOPMed: HyperGEN - Genetics of Left Ventricular (LV) Hypertrophy

description: 
The Hypertension Genetic Epidemiology Network Study (HyperGEN) - Genetics of Left Ventricular (LV) Hypertrophy is a familial study aimed to understand genetic risk factors for LV hypertrophy by conducting genetic studies of continuous traits from echocardiography exams. The originating HyperGEN study aimed to understand genetic risk factors for hypertension. Data from detailed clinical exams as well as genotyping data for linkage studies, candidate gene studies and GWAS have been collected and is shared between HyperGEN and the ancillary HyperGEN - Genetics of LV Hypertrophy study.
DOI: 10.60645/bdc-x536-4tda
title: NHLBI TOPMed: HyperGEN - Genetics of Left Ventricular (LV) Hypertrophy

description: 
The Hypertension Genetic Epidemiology Network Study (HyperGEN) - Genetics of Left Ventricular (LV) Hypertrophy is a familial study aimed to understand genetic risk factors for LV hypertrophy by conducting genetic studies of continuous traits from echocardiography exams. The originating HyperGEN study aimed to understand genetic risk factors for hypertension. Data from detailed clinical exams as well as genotyping data for linkage studies, candidate gene studies and GWAS have been collected and is shared between HyperGEN and the ancillary HyperGEN - Genetics of LV Hypertrophy study.
DOI: 10.60645/bdc-z573-6ukz
title: NextGen Consortium: iPS Derived Hepatocytes Study (PhLiPS Study)

description: 
The goal of the PhLiPS study is to create a library of induced pluripotent stem cell (iPSC) lines and iPSC-derived hepatocytes of diverse genotypes for use in metabolic profiling and interrogating lipid phenotypes. These cell lines were created as a part of the Next Generation Genetic Association Studies (Next Gen) Program, which was a five-year, $80 million program to investigate functional genetic variation in humans by assessing cellular profiles that are surrogates for disease phenotypes. To achieve this, researchers from multiple institutions across the U.S. were awarded grants to derive iPSC lines from more than 1,500 individuals representing various conditions as well as healthy controls for use in functional genomic ("disease in a dish") research. This extensive panel includes a diverse set of age, gender, and ethnic backgrounds, and therefore will be an invaluable tool for evaluations across demographics. Further enhancing the utility of these cell lines are data sets such as phenotyping, GWAS, genome sequencing, gene expression and -omics analyses (e.g., lipidomic, proteomic, methylomic) that can be matched to the cell lines. The PhLiPS Study focuses on individuals free of cardiovascular disease or with lipoprotein metabolism disorders in the community served by the Hospital of the University of Pennsylvania.
DOI: 10.60645/bdc-35s2-e3wx
title: NHLBI TOPMed: Genetic Epidemiology Network of Arteriopathy (GENOA)

description: 
The Genetic Epidemiology Network of Arteriopathy (GENOA) is one of four networks in the NHLBI Family-Blood Pressure Program (FBPP). GENOA's long-term objective is to elucidate the genetics of target organ complications of hypertension, including both atherosclerotic and arteriolosclerotic complications involving the heart, brain, kidneys, and peripheral arteries. The longitudinal GENOA Study recruited European-American and African-American sibships with at least 2 individuals with clinically diagnosed essential hypertension before age 60 years. All other members of the sibship were invited to participate regardless of their hypertension status. Participants were diagnosed with hypertension if they had either 1) a previous clinical diagnosis of hypertension by a physician with current anti-hypertensive treatment, or 2) an average systolic blood pressure = 140 mm Hg or diastolic blood pressure = 90 mm Hg based on the second and third readings at the time of their clinic visit. Only participants of the African-American Cohort were sequenced through TOPMed.

The Family Blood Pressure Program (FBPP), GENOA's parent program, is an unprecedented collaboration to identify genes influencing blood pressure (BP) levels, hypertension, and its target-organ damage. This program has conducted over 21,000 physical examinations, assembled a shared database of several hundred BP and hypertension-related phenotypic measurements, completed genome-wide linkage analyses for BP, hypertension, and hypertension associated risk factors and complications, and published over 130 manuscripts on program findings. The FBPP emerged from what was initially funded as four independent networks of investigators (HyperGEN, GenNet, SAPPHIRe and GENOA) competing to identify genetic determinants of hypertension in multiple ethnic groups. Realizing the greater likelihood of success through collaboration, the investigators created a single confederation with program-wide and network-specific goals.

Comprehensive phenotypic data for GENOA study participants are available through dbGaP [phs001238](./study.cgi?study_id=phs001238).
DOI: 10.34740/kaggle/dsv/14752409
title: Peer-to-Peer Boliviano (BOB) Exchange Data
DOI: 10.60645/bdc-q5za-1azt
title: NHLBI TOPMed: GOLDN Epigenetic Determinants of Lipid Response to Dietary Fat and Fenofibrate

description: 
The GOLDN study was initiated to assess how genetic factors interact with environmental (diet and drug) interventions to influence blood levels of triglycerides and other atherogenic lipid species and inflammation markers (registered at clinicaltrials.gov, number [NCT00083369](https://clinicaltrials.gov/ct2/show/NCT00083369)). The study recruited Caucasian participants primarily from three-generational pedigrees from two NHLBI Family Heart Study (FHS) field centers (Minneapolis, MN and Salt Lake City, UT). Only families with at least two siblings were recruited and only participants who did not take lipid-lowering agents (pharmaceuticals or nutraceuticals) for at least 4 weeks prior to the initial visit were included. The diet intervention followed the protocol of Patsch et al. ([1992](https://www.ncbi.nlm.nih.gov/pubmed/1420093)). The whipping cream (83% fat) meal had 700 Calories/m2 body surface area (2.93 mJ/m2 body surface area): 3% of calories were derived from protein (instant nonfat dry milk) and 14% from carbohydrate (sugar). The ratio of polyunsaturated to saturated fat was 0.06 and the cholesterol content of the average meal was 240 mg. The mixture was blended with ice and flavorings. Blood samples were drawn immediately before (fasting) and at 3.5 and 6 hours after consuming the high-fat meal. The diet intervention was administered at baseline as well as after a 3-week treatment with 160 mg micronized fenofibrate. Participants were given the option to complete one or both (diet and drug) interventions. Of all participants, 1079 had phenotypic data and provided appropriate consent, and underwent whole genome sequencing through the Trans-Omics for Precision Medicine (TOPMed) program.

Comprehensive phenotypic and pedigree data for GOLDN study participants are available through dbGaP [phs000741](./study.cgi?study_id=phs000741).
DOI: 10.60645/bdc-apwj-gef9
title: NHLBI TOPMed: Trans-Omics for Precision Medicine (TOPMed) Whole Genome Sequencing Project: Cardiovascular Health Study

description: 
Participants from the Cardiovascular Health Study (CHS), a large population-based longitudinal cohort study ([phs000287](study.cgi?study_id=phs000287)), have been included in the TOPMed project. Whole genome sequencing will be performed to contribute to multiple analyses, including cardiovascular disease risk factors, subclinical disease measures, the occurrence of myocardial infarction (MI) and stroke, and analyses of venous thromboembolism (VTE).

Comprehensive phenotypic and pedigree data for study participants are available through dbGaP [phs000287](https://www.ncbi.nlm.nih.gov/gap/advanced_search/?TERM=phs000287).
DOI: 10.60645/bdc-qh1q-2st1
title: NHLBI TOPMed: Trans-Omics for Precision Medicine (TOPMed) Whole Genome Sequencing Project: Cardiovascular Health Study

description: 
Participants from the Cardiovascular Health Study (CHS), a large population-based longitudinal cohort study ([phs000287](study.cgi?study_id=phs000287)), have been included in the TOPMed project. Whole genome sequencing will be performed to contribute to multiple analyses, including cardiovascular disease risk factors, subclinical disease measures, the occurrence of myocardial infarction (MI) and stroke, and analyses of venous thromboembolism (VTE).

Comprehensive phenotypic and pedigree data for study participants are available through dbGaP [phs000287](https://www.ncbi.nlm.nih.gov/gap/advanced_search/?TERM=phs000287).
DOI: 10.60645/bdc-u11k-em67
title: NHLBI TOPMed: Trans-Omics for Precision Medicine (TOPMed) Whole Genome Sequencing Project: Cardiovascular Health Study

description: 
Participants from the Cardiovascular Health Study (CHS), a large population-based longitudinal cohort study ([phs000287](study.cgi?study_id=phs000287)), have been included in the TOPMed project. Whole genome sequencing will be performed to contribute to multiple analyses, including cardiovascular disease risk factors, subclinical disease measures, the occurrence of myocardial infarction (MI) and stroke, and analyses of venous thromboembolism (VTE).

Comprehensive phenotypic and pedigree data for study participants are available through dbGaP [phs000287](https://www.ncbi.nlm.nih.gov/gap/advanced_search/?TERM=phs000287).
DOI: 10.60645/bdc-y80u-803p
title: NHLBI TOPMed: Trans-Omics for Precision Medicine (TOPMed) Whole Genome Sequencing Project: Cardiovascular Health Study

description: 
Participants from the Cardiovascular Health Study (CHS), a large population-based longitudinal cohort study ([phs000287](study.cgi?study_id=phs000287)), have been included in the TOPMed project. Whole genome sequencing will be performed to contribute to multiple analyses, including cardiovascular disease risk factors, subclinical disease measures, the occurrence of myocardial infarction (MI) and stroke, and analyses of venous thromboembolism (VTE).

Comprehensive phenotypic and pedigree data for study participants are available through dbGaP [phs000287](https://www.ncbi.nlm.nih.gov/gap/advanced_search/?TERM=phs000287).
DOI: 10.60645/bdc-1umq-310e
title: NHLBI TOPMed: Trans-Omics for Precision Medicine (TOPMed) Whole Genome Sequencing Project: Cardiovascular Health Study

description: 
Participants from the Cardiovascular Health Study (CHS), a large population-based longitudinal cohort study ([phs000287](study.cgi?study_id=phs000287)), have been included in the TOPMed project. Whole genome sequencing will be performed to contribute to multiple analyses, including cardiovascular disease risk factors, subclinical disease measures, the occurrence of myocardial infarction (MI) and stroke, and analyses of venous thromboembolism (VTE).

Comprehensive phenotypic and pedigree data for study participants are available through dbGaP [phs000287](https://www.ncbi.nlm.nih.gov/gap/advanced_search/?TERM=phs000287).
DOI: 10.60645/bdc-0h11-y37x
title: NHLBI TOPMed: Trans-Omics for Precision Medicine (TOPMed) Whole Genome Sequencing Project: Cardiovascular Health Study

description: 
Participants from the Cardiovascular Health Study (CHS), a large population-based longitudinal cohort study ([phs000287](study.cgi?study_id=phs000287)), have been included in the TOPMed project. Whole genome sequencing will be performed to contribute to multiple analyses, including cardiovascular disease risk factors, subclinical disease measures, the occurrence of myocardial infarction (MI) and stroke, and analyses of venous thromboembolism (VTE).

Comprehensive phenotypic and pedigree data for study participants are available through dbGaP [phs000287](https://www.ncbi.nlm.nih.gov/gap/advanced_search/?TERM=phs000287).
DOI: 10.15468/dl.ajc8rp
title: Occurrence Download

description: A dataset containing 15 species occurrences available in GBIF matching the query:
{
 "and" : [
 "TaxonKey is Pritchardia arecina",
 "HasCoordinate is true",
 "BasisOfRecord is one of (Specimen)"
 ]
}

 The dataset includes 15 records from 2 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0016305-260129131611470/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.60645/bdc-p3rm-585f
title: NHLBI TOPMed: Trans-Omics for Precision Medicine (TOPMed) Whole Genome Sequencing Project: Cardiovascular Health Study

description: 
Participants from the Cardiovascular Health Study (CHS), a large population-based longitudinal cohort study ([phs000287](study.cgi?study_id=phs000287)), have been included in the TOPMed project. Whole genome sequencing will be performed to contribute to multiple analyses, including cardiovascular disease risk factors, subclinical disease measures, the occurrence of myocardial infarction (MI) and stroke, and analyses of venous thromboembolism (VTE).

Comprehensive phenotypic and pedigree data for study participants are available through dbGaP [phs000287](https://www.ncbi.nlm.nih.gov/gap/advanced_search/?TERM=phs000287).
DOI: 10.60645/bdc-jetk-h4mc
title: NHLBI TOPMed: Rare Variants for Hypertension in Taiwan Chinese (THRV)

description: 
The THRV-TOPMed study consists of three cohorts: The SAPPHIRe Family cohort (N=1,271), TSGH (Tri-Service General Hospital, a hospital-based cohort, N=160), and TCVGH (Taichung Veterans General Hospital, another hospital-based cohort, N=922), all based in Taiwan. 1,271 subjects were previously recruited as part of the NHLBI-sponsored SAPPHIRe Network (which is part of the Family Blood Pressure Program, FBPP). The SAPPHIRe families were recruited to have two or more hypertensive sibs, some families also with one normotensive/hypotensive sib. The two Hospital-based cohorts (TSGH and TCVGH) both recruited unrelated subjects with different recruitment criteria (matched with SAPPHIRe subjects for age, sex, and BMI category).
DOI: 10.6084/m9.figshare.30746759.v1
title: FIGURES AND TABLES CHAPTER 1 - PHD DISSERTATION SIMONE CALDARONI

description: FIGURES AND TABLES CHAPTER 1 - PHD DISSERTATION SIMONE CALDARONI
DOI: 10.60645/bdc-na6i-9s42
title: NHLBI TOPMed - NHGRI CCDG: Hispanic Community Health Study/Study of Latinos (HCHS/SOL)

description: 
This study contains whole genome sequence data. A case-control sample of individuals from the Hispanic Community Health Study/Study of Latinos (HCHS/SOL), a multicenter prospective cohort study of 16,415 persons of Cuban, Dominican, Mexican, Puerto Rican, Central American, and South American background ([phs000810](study.cgi?study_id=phs000810)), was selected for whole genome sequencing, including participants with a history of physician-diagnosed asthma and asthma-free participants.
DOI: 10.60645/bdc-1t58-75l4
title: NHLBI TOPMed - NHGRI CCDG: Hispanic Community Health Study/Study of Latinos (HCHS/SOL)

description: 
This study contains whole genome sequence data. A case-control sample of individuals from the Hispanic Community Health Study/Study of Latinos (HCHS/SOL), a multicenter prospective cohort study of 16,415 persons of Cuban, Dominican, Mexican, Puerto Rican, Central American, and South American background ([phs000810](study.cgi?study_id=phs000810)), was selected for whole genome sequencing, including participants with a history of physician-diagnosed asthma and asthma-free participants.
DOI: 10.60645/bdc-92s3-bl83
title: NHLBI TOPMed - NHGRI CCDG: Hispanic Community Health Study/Study of Latinos (HCHS/SOL)

description: 
This study contains whole genome sequence data. A case-control sample of individuals from the Hispanic Community Health Study/Study of Latinos (HCHS/SOL), a multicenter prospective cohort study of 16,415 persons of Cuban, Dominican, Mexican, Puerto Rican, Central American, and South American background ([phs000810](study.cgi?study_id=phs000810)), was selected for whole genome sequencing, including participants with a history of physician-diagnosed asthma and asthma-free participants.
DOI: 10.60645/bdc-d542-4822
title: NHLBI TOPMed - NHGRI CCDG: Hispanic Community Health Study/Study of Latinos (HCHS/SOL)

description: 
This study contains whole genome sequence data. A case-control sample of individuals from the Hispanic Community Health Study/Study of Latinos (HCHS/SOL), a multicenter prospective cohort study of 16,415 persons of Cuban, Dominican, Mexican, Puerto Rican, Central American, and South American background ([phs000810](study.cgi?study_id=phs000810)), was selected for whole genome sequencing, including participants with a history of physician-diagnosed asthma and asthma-free participants.
DOI: 10.60645/bdc-tr07-4kbc
title: NHLBI TOPMed: Whole Genome Sequencing of Venous Thromboembolism (WGS of VTE)

description: 
This study consists of 338 VTE cases from an inception cohort of Olmsted County, MN residents (OC) with a first lifetime objectively-diagnosed idiopathic VTE during the 40-year study period, 1966-2005. All living study subjects were invited to provide a whole blood sample at the Mayo Clinical Research Unit for leukocyte genomic DNA and plasma collection. For living study subjects who did not provide a blood sample, we retrieved any leftover blood ("waste" blood) from samples collected as part of routine clinical diagnostic testing and used this to extract DNA after obtaining patient consent. For deceased cases, with IRB approval, we extracted DNA from any available stored tissue within the Mayo Tissue Archive. This "tissue" DNA has been successfully genotyped in prior studies. Three trained and experienced study nurse abstractors reviewed the complete medical records in the community of all potential cases.

Note: WGS sample IDs for the previous GENEVA study cases ([phs000289](./study.cgi?study_id=phs000289)) are included in this dataset. The phenotypes for the GENEVA study are located under the above phs number.
DOI: 10.60645/bdc-x939-n72y
title: NHLBI TOPMed: Whole Genome Sequencing of Venous Thromboembolism (WGS of VTE)

description: 
This study consists of 338 VTE cases from an inception cohort of Olmsted County, MN residents (OC) with a first lifetime objectively-diagnosed idiopathic VTE during the 40-year study period, 1966-2005. All living study subjects were invited to provide a whole blood sample at the Mayo Clinical Research Unit for leukocyte genomic DNA and plasma collection. For living study subjects who did not provide a blood sample, we retrieved any leftover blood ("waste" blood) from samples collected as part of routine clinical diagnostic testing and used this to extract DNA after obtaining patient consent. For deceased cases, with IRB approval, we extracted DNA from any available stored tissue within the Mayo Tissue Archive. This "tissue" DNA has been successfully genotyped in prior studies. Three trained and experienced study nurse abstractors reviewed the complete medical records in the community of all potential cases.

Note: WGS sample IDs for the previous GENEVA study cases ([phs000289](./study.cgi?study_id=phs000289)) are included in this dataset. The phenotypes for the GENEVA study are located under the above phs number.
DOI: 10.60645/bdc-3sj7-fos2
title: NHLBI TOPMed: Diabetes Heart Study (DHS) African American Coronary Artery Calcification (AA CAC)

description: 
The Diabetes Heart Study (DHS) is a family-based study enriched for type 2 diabetes (T2D). The cohort included 1443 European American and African American participants from 564 families with multiple cases of type 2 diabetes (Bowden et al., 2010. Review of Diabetic Studies 7:188-201. PMID: [21409311](https://www.ncbi.nlm.nih.gov/pubmed/21409311)). 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-w0vt-83ja
title: NHLBI TOPMed: Diabetes Heart Study (DHS) African American Coronary Artery Calcification (AA CAC)

description: 
The Diabetes Heart Study (DHS) is a family-based study enriched for type 2 diabetes (T2D). The cohort included 1443 European American and African American participants from 564 families with multiple cases of type 2 diabetes (Bowden et al., 2010. Review of Diabetic Studies 7:188-201. PMID: [21409311](https://www.ncbi.nlm.nih.gov/pubmed/21409311)). 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-p6w3-e31i
title: NHLBI TOPMed: Defining the Time-Dependent Genetic and Transcriptomic Responses to Cardiac Injury Among Patients with Arrhythmias

description: 
The UMMS miRhythm Study is an ongoing study of adult patients undergoing an elective electrophysiology study or arrhythmia ablation procedure for a supraventricular or ventricular arrhythmia, including atrial fibrillation (AF). Atrial fibrillation is a major clinical and public health problem that is related to atrial pathologic remodeling. Few tools are available to quantify the activity or extent of this remodeling, rendering it difficult to identify individuals at risk for AF. Previous studies have suggested an important role for miRNA in cardiovascular disease through gene expression regulation, making this a promising avenue for studying AF mechanisms.

The aim of the study is to determine the time-dependent changes to key circulating miRNAs in a model of planned atrial injury and remodeling via ablation. Such knowledge might provide additional insight into the biology and activity of the acute atrial injury response, and furthermore, inform new targets for development of preventative interventions or allow for better AF risk stratification. To assess pathways regulating atrial pathological remodeling, patient blood samples are collected prior to their ablation procedures and also at a regularly scheduled 1-month follow-up appointment. Plasma expression of miRNA is measured using high-throughput quantitative reverse transcriptase polymerase chain reaction (RT-qPCR), providing novel insights into the regulatory processes underlying AF, as well as acute atrial injury in vivo. Additionally, data collected from whole-genome sequencing (WGS) is used to supplement miRNA analyses and further explore new relations between genes and abnormal heart rhythm.
DOI: 10.60645/bdc-m2bt-kp89
title: NHLBI TOPMed: Australian Familial Atrial Fibrillation Study

description: 
In the Australian Familial AF Study, a cohort of probands with familial AF was recruited for genetics studies at the Victor Chang Cardiac Research Institute. Familial AF cases were identified from in-patient and out-patient populations at St. Vincent's Hospital and by referral from collaborating physicians throughout Australia. Study subjects underwent clinical evaluation with history, ECG and echocardiogram, and informed consent was obtained from all participants. 151 probands aged &lt;66 years at the time of diagnosis were included in this analysis. The control cohort was comprised of age- and sex-matched individuals (n=151) who had no history of cardiovascular disease.

In the current TOPMed study, we have performed whole genome sequencing in European Ancestry cases with early-onset atrial fibrillation (defined as atrial fibrillation onset prior to 61 years).