cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.60645/bdc-h4d1-48n9
title: MIchigan-CORnell-TEXas (MICORTEX) - Estimating the Contribution of the Network of DNA Sequence Variations to the Prediction of CHD and Diabetes

description: 
This sub-study [phs000860](./study.cgi?study_id=phs000860) MICORTEX contains genotype and selected phenotype of subjects available from the [phs000860](./study.cgi?study_id=phs000860) study. Summary level phenotypes for the NHLBI ARIC Cohort study participants can be viewed at the top-level study page [phs000280](./study.cgi?study_id=phs000280) ARIC Cohort. Individual level phenotype data and molecular data for all ARIC Cohort top-level study and sub-study are available by requesting Authorized Access to the NHLBI ARIC Cohort [phs000280](./study.cgi?study_id=phs000280) study.

MICORTEX is a program in systems biology, funded by the National Institute of General Medical Sciences (NIGMS), which focuses on developing resources and non-traditional analytical approaches for answering the primary questions faced by investigators seeking to characterize the impact of DNA sequence variation on human health: Which DNA sequence variations, in which individuals, in which populations and in which environmental contexts within a particular population, predict incidence of coronary heart disease (CHD) and diabetes beyond established risk factors?
DOI: 10.60645/bdc-v90l-1ofb
title: MIchigan-CORnell-TEXas (MICORTEX) - Estimating the Contribution of the Network of DNA Sequence Variations to the Prediction of CHD and Diabetes

description: 
This sub-study [phs000860](./study.cgi?study_id=phs000860) MICORTEX contains genotype and selected phenotype of subjects available from the [phs000860](./study.cgi?study_id=phs000860) study. Summary level phenotypes for the NHLBI ARIC Cohort study participants can be viewed at the top-level study page [phs000280](./study.cgi?study_id=phs000280) ARIC Cohort. Individual level phenotype data and molecular data for all ARIC Cohort top-level study and sub-study are available by requesting Authorized Access to the NHLBI ARIC Cohort [phs000280](./study.cgi?study_id=phs000280) study.

MICORTEX is a program in systems biology, funded by the National Institute of General Medical Sciences (NIGMS), which focuses on developing resources and non-traditional analytical approaches for answering the primary questions faced by investigators seeking to characterize the impact of DNA sequence variation on human health: Which DNA sequence variations, in which individuals, in which populations and in which environmental contexts within a particular population, predict incidence of coronary heart disease (CHD) and diabetes beyond established risk factors?
DOI: 10.4121/16847073-ed29-4a0a-8cf7-88c9cfd7bc28.v1
title: Data supporting the research on Efficiency Measurements of Partial/Full Power Processing Converters and ECM Parameter Measurements for a Samsung 18650-35E Cell

description: The dataset includes two parts: (1) power electronics converter efficiency measurements across different operating points for both partial power processing and full power processing architectures (dual-active-bridge topology), and (2) battery characterization data, including equivalent circuit model (ECM) parameter measurements for a Samsung 18650-35E cell.
DOI: 10.60645/bdc-k0mm-99js
title: Exome Sequencing of a Family with Thrombocytopenia and Leukemia

description: 
A family with a history of bleeding, variable thrombocytopenia, red cell macrocytosis and two cases of pre B-cell acute lymphoblastic leukemia was studied in a single visit. The family was assessed for bleeding history using a bleeding questionnaire. Additionally, complete blood counts were measured and whole blood was collected from five affected individuals and three unaffected individuals for DNA extraction and whole exome sequencing.

The goal of this study is to determine the genetic cause of thrombocytopenia, red cell macrocytosis, and predisposition to leukemia in a family. It is hoped that the information obtained from this study will help researchers understand the genetic and molecular basis of platelet and red cell production, as well as leukemia predisposition.
DOI: 10.60645/bdc-d331-3gus
title: An Omics View of Asthma through Monozygotic Twins

description: 
The etiology of asthma involves both genetic and non-genetic factors. We performed whole transcriptome sequencing on monozygotic twins discordant or concordant for asthma (with concordant healthy twins as controls), and identified multiple potential transcriptomic profiles associated with the asthma phenotype.
DOI: 10.60645/bdc-9alq-k05r
title: MIGen_ExS: Regicor

description: 
The Registre Gironi del Cor (REGICOR) study developed a nested case-control cohort from the Girona province in Spain in order to study genetic factors associated with the development of coronary heart disease. All exome sequencing was performed at the Broad Institute of Harvard and MIT; samples sequence capture was performed using Agilent SureSelect Human All Exon Kit v2 and sequencing was performed on an Illumina HiSeq 2000 or 2500.
DOI: 10.60645/bdc-eg7i-9f3h
title: Genome-Wide Association Study of Adiposity in Samoans

description: 
The research goal of this study is to identify genetic variation that increases susceptibility to obesity and cardiometabolic phenotypes among adult Samoans using genome-wide association (GWAS) methods. DNA from peripheral blood and phenotypic information were collected from 3,119 adult Samoans, 23 to 70 years of age. The participants reside throughout the independent nation of Samoa, which is experiencing economic development and the nutrition transition. Genotyping was performed with the Affymetrix Genome-Wide Human SNP 6.0 Array using a panel of approximately 900,000 SNPs. Anthropometric, fasting blood biomarkers and detailed dietary, physical activity, health and socio-demographic variables were collected. We are replicating the GWAS findings in an independent sample of 2,500 Samoans from earlier studies. After replication of genomic regions and informative SNPs in those regions, we will determine sequences of the important genes, and determine the specific genetic variants in the sequenced genes that are associated with adiposity and related cardiometabolic conditions. We will also identify gene by environment interactions, focusing on dietary intake patterns and nutrients.
DOI: 10.60645/bdc-u5i1-lfgu
title: MIGen_ExS: 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. All exome sequencing was performed at the Broad Institute of Harvard and MIT; samples sequence capture was performed using either Agilent&#39;s SureSelect Human All Exon Kit v2 or Illumina&#39;s ICE capture reagent; and sequencing was performed on an Illumina HiSeq 2000 or 2500.
DOI: 10.60645/bdc-sgqz-yyo8
title: NHLBI TOPMed - NHGRI CCDG: Genes-Environments and Admixture in Latino Asthmatics (GALA II)

description: 
This is a case-only pharmacogenetic study of bronchodilator drug response among racially admixed Latino children with asthma. Each participant had two spirometry measurements using the KoKo PFT System. With the first spirometry test, participant was administered with 4 puffs of HFA Albuterol. The second albuterol measurement was based on age, for participants under 16 years of age, additional 2 puffs were administered and for those over 16 years of age, additional 4 puffs were administered. The overall goal is to identify genetic factors which are predictive of drug response in children with asthma. The principal tools include a questionnaire and biological specimen collection. Participants are 8-21 years old at time of recruitment. Children with asthma have physician-diagnosed asthma, symptoms and medications.

Comprehensive phenotypic data for GALAII study participants are available through dbGaP [phs001180](./study.cgi?study_id=phs001180).
DOI: 10.60645/bdc-3j5j-65q5
title: NHLBI TOPMed - NHGRI CCDG: Genes-Environments and Admixture in Latino Asthmatics (GALA II)

description: 
This is a case-only pharmacogenetic study of bronchodilator drug response among racially admixed Latino children with asthma. Each participant had two spirometry measurements using the KoKo PFT System. With the first spirometry test, participant was administered with 4 puffs of HFA Albuterol. The second albuterol measurement was based on age, for participants under 16 years of age, additional 2 puffs were administered and for those over 16 years of age, additional 4 puffs were administered. The overall goal is to identify genetic factors which are predictive of drug response in children with asthma. The principal tools include a questionnaire and biological specimen collection. Participants are 8-21 years old at time of recruitment. Children with asthma have physician-diagnosed asthma, symptoms and medications.

Comprehensive phenotypic data for GALAII study participants are available through dbGaP [phs001180](./study.cgi?study_id=phs001180).
DOI: 10.60645/bdc-g555-m39h
title: NHLBI TOPMed: Study of African Americans, Asthma, Genes and Environment (SAGE)

description: 
This is a parallel case-control pharmacogenetic study of bronchodilator drug response among African American children with and without asthma. Each participant had spirometry measured using the KoKo PFT System. Asthmatic participants were administered with 4 puffs of HFA Albuterol. Healthy participants were given a baseline spirometry test. The overall goal is to identify genetic factors which are predictive of drug response in children with asthma. The principal tools include a questionnaire and biological specimen collection. Participants were 8-21 years old at time of recruitment. Children with asthma have physician-diagnosed asthma, symptoms and medications.
DOI: 10.60645/bdc-6r4m-sk1s
title: NHLBI TOPMed: Study of African Americans, Asthma, Genes and Environment (SAGE)

description: 
This is a parallel case-control pharmacogenetic study of bronchodilator drug response among African American children with and without asthma. Each participant had spirometry measured using the KoKo PFT System. Asthmatic participants were administered with 4 puffs of HFA Albuterol. Healthy participants were given a baseline spirometry test. The overall goal is to identify genetic factors which are predictive of drug response in children with asthma. The principal tools include a questionnaire and biological specimen collection. Participants were 8-21 years old at time of recruitment. Children with asthma have physician-diagnosed asthma, symptoms and medications.
DOI: 10.60645/bdc-233r-9y94
title: CHARGE (Cohorts for Heart and Aging Research in Genomic Epidemiology) Consortium Summary Results from Genomic Studies

description: 
GWAS have successfully identified genetic loci associated with a variety of conditions such as type 2 diabetes and coronary disease. The large number of statistical tests required in GWAS has posed a special challenge because few studies that have DNA and high-quality phenotype data are sufficiently large to provide adequate statistical power for detecting small to modest effect sizes. Even before the era of GWAS, the requirement for large sample sizes and the importance of replication have served as powerful incentives for collaboration. Meta-analyses combining summary data from multiple sources have improved the ability to detect new loci. The Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium was formed to facilitate GWAS meta-analyses and replication among multiple large and well-phenotyped cohort studies. The design of the CHARGE Consortium was formed initially from 5 prospective cohort studies from the United States and Europe: the Age, Gene/Environment Susceptibility (AGES) - Reykjavik Study, the [Atherosclerosis Risk in Communities (ARIC) Study](./study.cgi?study_id=phs000280), the [Cardiovascular Health Study (CHS)](./study.cgi?study_id=phs000287), the [Framingham Heart Study (FHS)](./study.cgi?study_id=phs000007), and the Rotterdam Study (RS). Additional studies have expanded the CHARGE consortium based upon the phenotypes and willingness to share information across the research community.

In order to facilitate investigators across the world to examine relationships between phenotypes and genetic markers within CHARGE published reports, an open site is made available on dbGaP that provides the rsID and the p-value for inspection. Access to detailed summary statistics (including minor allele frequency, odds ratio/effect size) requires approval of a Data Access Request (DAR).
DOI: 10.60645/bdc-gdy3-1r64
title: NHLBI GO-ESP: Early-Onset Myocardial Infarction Exome Chip (Broad EOMI)

description: 
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.

As part of this initiative, the Broad has performed genotyping on several thousand subjects from 4 different cohorts on Illumina&#39;s ExomeChip platform as described below:  - The Duke Study: The Duke study enrolled cases from the Duke University Medical Center with myocardial infarction or coronary artery stenosis &gt; 50%. Controls were individuals who were &gt; 50 years old without coronary stenosis &gt; 30% and without history of myocardial infarction, coronary artery bypass grafting, percutaneous coronary intervention, or heart transplant. - The InterMountain Heart Study: The Intermountain Heart Study is an observational registry of individuals with coronary artery disease and healthy controls who received care at participating Intermountain Healthcare facilities. - The Ottawa Heart Study: The Ottawa heart study enrolled cases with angiographically confirmed coronary artery disease (&gt; 1 coronary artery with &gt; 50% stenosis) who did not have type 2 diabetes and were &#8804; 50 years old for males and &#8804; 50 years old for females. Controls were also enrolled who were asymptomatic males &gt; age 65 and females &gt; age 70. - PennCATH: PennCATH is a case-control study that recruited individuals undergoing coronary angiography at the University of Pennsylvania Hospital. Cases had angiographically confirmed coronary artery disease (&gt;1 coronary artery with 50% stenosis) and were &#8804; 55 years old if male and &#8804; 60 years old if female. Controls were men &gt; 40 years old and women &gt; 45 years old with normal coronary angiography.
DOI: 10.15468/dl.m97m6z
title: Occurrence Download

description: A dataset containing 6 species occurrences available in GBIF matching the query:
{
 "and" : [
 "Continent is Europe",
 "Country is one of (Austria, Belgium, Bulgaria, Croatia, Cyprus, Czechia, Denmark, Estonia, Finland, France, Germany, Greece, Hungary, Ireland, Italy, Latvia, Lithuania, Luxembourg, Malta, Netherlands, Poland, Portugal, Romania, Slovakia, Slovenia, Spain, Sweden)",
 "DatasetKey is iNaturalist Research-grade Observations",
 "OccurrenceStatus is Present",
 "TaxonKey is Muntiacus reevesi"
 ]
}

 The dataset includes 6 records from 1 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0016303-260129131611470/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.60645/bdc-n338-gr3n
title: NHLBI GO-ESP: Early-Onset Myocardial Infarction Exome Chip (Broad EOMI)

description: 
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.

As part of this initiative, the Broad has performed genotyping on several thousand subjects from 4 different cohorts on Illumina&#39;s ExomeChip platform as described below:  - The Duke Study: The Duke study enrolled cases from the Duke University Medical Center with myocardial infarction or coronary artery stenosis &gt; 50%. Controls were individuals who were &gt; 50 years old without coronary stenosis &gt; 30% and without history of myocardial infarction, coronary artery bypass grafting, percutaneous coronary intervention, or heart transplant. - The InterMountain Heart Study: The Intermountain Heart Study is an observational registry of individuals with coronary artery disease and healthy controls who received care at participating Intermountain Healthcare facilities. - The Ottawa Heart Study: The Ottawa heart study enrolled cases with angiographically confirmed coronary artery disease (&gt; 1 coronary artery with &gt; 50% stenosis) who did not have type 2 diabetes and were &#8804; 50 years old for males and &#8804; 50 years old for females. Controls were also enrolled who were asymptomatic males &gt; age 65 and females &gt; age 70. - PennCATH: PennCATH is a case-control study that recruited individuals undergoing coronary angiography at the University of Pennsylvania Hospital. Cases had angiographically confirmed coronary artery disease (&gt;1 coronary artery with 50% stenosis) and were &#8804; 55 years old if male and &#8804; 60 years old if female. Controls were men &gt; 40 years old and women &gt; 45 years old with normal coronary angiography.
DOI: 10.60645/bdc-o89w-795u
title: NHLBI GO-ESP: Early-Onset Myocardial Infarction Exome Chip (Broad EOMI)

description: 
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.

As part of this initiative, the Broad has performed genotyping on several thousand subjects from 4 different cohorts on Illumina&#39;s ExomeChip platform as described below:  - The Duke Study: The Duke study enrolled cases from the Duke University Medical Center with myocardial infarction or coronary artery stenosis &gt; 50%. Controls were individuals who were &gt; 50 years old without coronary stenosis &gt; 30% and without history of myocardial infarction, coronary artery bypass grafting, percutaneous coronary intervention, or heart transplant. - The InterMountain Heart Study: The Intermountain Heart Study is an observational registry of individuals with coronary artery disease and healthy controls who received care at participating Intermountain Healthcare facilities. - The Ottawa Heart Study: The Ottawa heart study enrolled cases with angiographically confirmed coronary artery disease (&gt; 1 coronary artery with &gt; 50% stenosis) who did not have type 2 diabetes and were &#8804; 50 years old for males and &#8804; 50 years old for females. Controls were also enrolled who were asymptomatic males &gt; age 65 and females &gt; age 70. - PennCATH: PennCATH is a case-control study that recruited individuals undergoing coronary angiography at the University of Pennsylvania Hospital. Cases had angiographically confirmed coronary artery disease (&gt;1 coronary artery with 50% stenosis) and were &#8804; 55 years old if male and &#8804; 60 years old if female. Controls were men &gt; 40 years old and women &gt; 45 years old with normal coronary angiography.
DOI: 10.60645/bdc-2t28-18jg
title: NHLBI TOPMed: Boston Early-Onset COPD Study

description: Chronic obstructive pulmonary disease (COPD) is the third leading cause of death in the United States and the only leading cause of death that is steadily increasing in frequency. This project collected a set of extended pedigrees ascertained through subjects with severe, early-onset COPD. This study has enrolled subjects with severe COPD (forced expiratory volume in one second (FEV1) < 40% predicted) at an early age (< 53 years) without alpha-1 antitrypsin deficiency (a known Mendelian risk factor for COPD). Extended pedigrees are enrolled, primarily in New England, although some more geographically distant subjects have been included. This study has been used for epidemiological studies, familial aggregation analysis, linkage analysis, and candidate gene association analysis. Approximately 80 of the severe, early-onset COPD probands will undergo whole genome sequencing in this project with sequencing data available through dbGaP.
DOI: 10.60645/bdc-cc7u-jw31
title: NHLBI TOPMed: Boston Early-Onset COPD Study

description: 
Chronic obstructive pulmonary disease (COPD) is the third leading cause of death in the United States and the only leading cause of death that is steadily increasing in frequency. This project collected a set of extended pedigrees ascertained through subjects with severe, early-onset COPD. This study has enrolled subjects with severe COPD (forced expiratory volume in one second (FEV1) &lt; 40% predicted) at an early age (&lt; 53 years) without alpha-1 antitrypsin deficiency (a known Mendelian risk factor for COPD). Extended pedigrees are enrolled, primarily in New England, although some more geographically distant subjects have been included. This study has been used for epidemiological studies, familial aggregation analysis, linkage analysis, and candidate gene association analysis. Approximately 80 of the severe, early-onset COPD probands will undergo whole genome sequencing in this project with sequencing data available through dbGaP.