cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.60645/bdc-5cv3-5wbd
title: MIGen_ExS: MDC

description: 
The Malmo Diet and Cancer Study (MDCS) is a community-based prospective epidemiologic cohort of 28,449 subjects who were recruited for baseline examination between 1991 and 1996. From this cohort, 6103 subjects were randomly selected to participate in a cardiovascular cohort (MDCSCC), which seeks to investigate risk factors for cardiovascular disease. This study is a subset of those samples.

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-hv70-6z3p
title: CHARGE-S: MGH AF Study

description: 
This substudy phs001116 CHARGE-S: Massachusetts General Hospital (MGH) AF Study includes targeted capture sequencing produced as part of NHLBI&#39;s CHARGE-S project. Summary level phenotypes for the Massachusetts General Hospital (MGH) Atrial Fibrillation (AF) Study participants can be viewed at the top-level study page [phs001001](./study.cgi?study_id=phs001001) MGH AF Study. Individual level phenotype data and molecular data for all MGH AF top-level study and substudies are available by requesting Authorized Access to the MGH AF Study [phs001001](./study.cgi?study_id=phs001001).

Genome-wide association studies (GWAS) have successfully localized multiple loci containing common variations influencing coronary heart disease and its risk factors, but in most cases neither the gene underlying disease susceptibility nor the spectrum of candidate functional variants has been identified. Building on GWAS for NHLBI-diseases: the U.S. CHARGE consortium (the CHARGE sequencing (CHARGE-S) consortium) is a collaborative effort to leverage existing population, laboratory and computational resources to identify susceptibility genes underlying genome-wide significance and well-replicated GWAS findings for heart, lung and blood diseases and their risk factors. The U.S. CHARGE consortium consists of multiple large population-based longitudinal cohort studies, including the Atherosclerosis Risk in Communities (ARIC) Study (N=15,792), the Cardiovascular Health Study (CHS) (N=5,888), and the Framingham Heart Study (FHS) (N=14,428) and the Massachusetts General Hospital (MGH) Atrial Fibrillation (AF) Study (N=200).

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.
DOI: 10.60645/bdc-4wlr-xy6f
title: CHARGE-S: MGH AF Study

description: 
This substudy phs001116 CHARGE-S: Massachusetts General Hospital (MGH) AF Study includes targeted capture sequencing produced as part of NHLBI&#39;s CHARGE-S project. Summary level phenotypes for the Massachusetts General Hospital (MGH) Atrial Fibrillation (AF) Study participants can be viewed at the top-level study page [phs001001](./study.cgi?study_id=phs001001) MGH AF Study. Individual level phenotype data and molecular data for all MGH AF top-level study and substudies are available by requesting Authorized Access to the MGH AF Study [phs001001](./study.cgi?study_id=phs001001).

Genome-wide association studies (GWAS) have successfully localized multiple loci containing common variations influencing coronary heart disease and its risk factors, but in most cases neither the gene underlying disease susceptibility nor the spectrum of candidate functional variants has been identified. Building on GWAS for NHLBI-diseases: the U.S. CHARGE consortium (the CHARGE sequencing (CHARGE-S) consortium) is a collaborative effort to leverage existing population, laboratory and computational resources to identify susceptibility genes underlying genome-wide significance and well-replicated GWAS findings for heart, lung and blood diseases and their risk factors. The U.S. CHARGE consortium consists of multiple large population-based longitudinal cohort studies, including the Atherosclerosis Risk in Communities (ARIC) Study (N=15,792), the Cardiovascular Health Study (CHS) (N=5,888), and the Framingham Heart Study (FHS) (N=14,428) and the Massachusetts General Hospital (MGH) Atrial Fibrillation (AF) Study (N=200).

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.
DOI: 10.60645/bdc-s3a8-08v3
title: MGH AF Study: Exome Sequencing in Early-Onset Atrial Fibrillation

description: 
This substudy phs001117 Massachusetts General Hospital (MGH) AF Study: Exome Sequencing Study includes exome sequencing for subjects with early-onset atrial fibrillation. Summary level phenotypes for the Massachusetts General Hospital (MGH) Atrial Fibrillation (AF) Study participants can be viewed at the top-level study page [phs001001](./study.cgi?study_id=phs001001) MGH AF Study. Individual level phenotype data and molecular data for all MGH AF top-level study and substudies are available by requesting Authorized Access to the MGH AF Study [phs001001](./study.cgi?study_id=phs001001).

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.
DOI: 10.60645/bdc-wng7-175c
title: MGH AF Study: Exome Sequencing in Early-Onset Atrial Fibrillation

description: 
This substudy phs001117 Massachusetts General Hospital (MGH) AF Study: Exome Sequencing Study includes exome sequencing for subjects with early-onset atrial fibrillation. Summary level phenotypes for the Massachusetts General Hospital (MGH) Atrial Fibrillation (AF) Study participants can be viewed at the top-level study page [phs001001](./study.cgi?study_id=phs001001) MGH AF Study. Individual level phenotype data and molecular data for all MGH AF top-level study and substudies are available by requesting Authorized Access to the MGH AF Study [phs001001](./study.cgi?study_id=phs001001).

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.
DOI: 10.15128/r1pn89d6605
title: Muon spectroscopy investigation of anomalous dynamic magnetism in NiI2 [dataset]

description: We present the results of muon-spin relaxation ($\mu^{+}$SR) measurements of the van der Waals magnet NiI$_2$, which probe magnetic phase transitions at $T_{\mathrm{N1}}=73$~K and $T_{\mathrm{N2}}=62$~K. Supporting density functional theory (DFT) calculations allow the determination of a single muon stopping site whose magnetic environment is consistent with the proposed ground-state magnetic structure. $\mu^{+}$SR measurements of the dynamics reveal behavior consistent with spin-wave excitations below $T_{\mathrm{N2}}$. In the region $T_{\mathrm{N2}}
DOI: 10.5281/zenodo.18504989
title: data set for "Functional interactions of Gp22 and Gp23 with Gp21 DNA helicase define the replication module of dairy-relevant Ceduovirus phage 94p4"

description: data set for "Functional interactions of Gp22 and Gp23 with Gp21 DNA helicase define the replication module of dairy-relevant Ceduovirus phage 94p4"
DOI: 10.5281/zenodo.18504988
title: data set for "Functional interactions of Gp22 and Gp23 with Gp21 DNA helicase define the replication module of dairy-relevant Ceduovirus phage 94p4"

description: data set for "Functional interactions of Gp22 and Gp23 with Gp21 DNA helicase define the replication module of dairy-relevant Ceduovirus phage 94p4"
DOI: 10.60645/bdc-14e9-559a
title: MGH AF Study: Resequencing Five GWAS Loci for Atrial Fibrillation

description: 
This substudy phs001118 Massachusetts General Hospital (MGH) AF Study: Resequencing includes deep coverage targeted re-sequencing and variant identification for 5 GWAS loci in the MGH AF sample collection. Summary level phenotypes for the Massachusetts General Hospital (MGH) Atrial Fibrillation (AF) Study participants can be viewed at the top-level study page [phs001001](./study.cgi?study_id=phs001001) MGH AF Study. Individual level phenotype data and molecular data for all MGH AF top-level study and substudies are available by requesting Authorized Access to the MGH AF Study [phs001001](./study.cgi?study_id=phs001001).

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.
DOI: 10.60645/bdc-4ot6-q0t6
title: MGH AF Study: Resequencing Five GWAS Loci for Atrial Fibrillation

description: 
This substudy phs001118 Massachusetts General Hospital (MGH) AF Study: Resequencing includes deep coverage targeted re-sequencing and variant identification for 5 GWAS loci in the MGH AF sample collection. Summary level phenotypes for the Massachusetts General Hospital (MGH) Atrial Fibrillation (AF) Study participants can be viewed at the top-level study page [phs001001](./study.cgi?study_id=phs001001) MGH AF Study. Individual level phenotype data and molecular data for all MGH AF top-level study and substudies are available by requesting Authorized Access to the MGH AF Study [phs001001](./study.cgi?study_id=phs001001).

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.
DOI: 10.60645/bdc-0os7-5h3h
title: NHLBI TOPMed: The Genetics and Epidemiology of Asthma in Barbados

description: 
Asthma is a complex disease where the interplay between genetic factors and environmental exposures influences susceptibility and disease prognosis. Asthmatics of African descent tend to have more severe asthma and more severe clinical symptoms than individuals of European ancestry. The baseline prevalence of asthma in Barbados is high (~20%), and from admixture analyses, we have determined that the proportion of African ancestry among Barbadian founders is similar to U.S. African Americans, rendering this a unique population to disentangle the genetic basis for asthma disparities among African ancestry populations in general. We therefore performed whole genome sequencing on 1,100 individuals from the Barbados Genetics of Asthma Study (BAGS), in order to generate additional discovery of rare and structural variants that may control risk to asthma.
DOI: 10.60645/bdc-z246-6711
title: Genes-Environments and Admixture in Latino Asthmatics (GALA II) Study

description: 
A case-control 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.

The GALAII 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" box located on the right hand side of this top-level study page phs001180 GALAII Study.  - [phs001274](./study.cgi?study_id=phs001274)phs001274 GALAII GWAS
DOI: 10.60645/bdc-959d-y385
title: NHLBI TOPMed: Cleveland Clinic Atrial Fibrillation (CCAF) Study

description: The Cleveland Clinic Atrial Fibrillation Study consists of clinical and genetic data of patients with atrial fibrillation and control cohorts from the Cleveland Clinic CV/Arrhythmia Biobank, including the Cleveland Clinic Lone Atrial Fibrillation GeneBank. The Cleveland Clinic Lone AF GeneBank Study has enrolled patients with lone AF, defined as AF in the absence of significant structural heart disease. The CV/Arrhythmia Biobank has also enrolled participants with non-lone atrial fibrillation. All patients provided written informed consent.
DOI: 10.60645/bdc-5a9y-f6ky
title: NHLBI TOPMed: Cleveland Clinic Atrial Fibrillation (CCAF) Study

description: 
The Cleveland Clinic Atrial Fibrillation Study consists of clinical and genetic data of patients with atrial fibrillation and control cohorts from the Cleveland Clinic CV/Arrhythmia Biobank, including the Cleveland Clinic Lone Atrial Fibrillation GeneBank. The Cleveland Clinic Lone AF GeneBank Study has enrolled patients with lone AF, defined as AF in the absence of significant structural heart disease. The CV/Arrhythmia Biobank has also enrolled participants with non-lone atrial fibrillation. All patients provided written informed consent.
DOI: 10.60645/bdc-y562-79ci
title: Pediatric Cardiac Genetics Consortium (PCGC) Study

description: 
Multi-center, prospective observational cohort study of individuals with congenital heart defects (CHD). Phenotypic data and source DNA derived from 10,000 probands, parents, and families of interest are being collected to investigate relationships between genetic factors and phenotypic and clinical outcomes in patients with CHD.

The PCGC Cohort is utilized in the following dbGaP substudies. To view genotypes, 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 phs001194 PCGC Cohort.  - [phs000571](./study.cgi?study_id=phs000571) The Pediatric Cardiac Genetics Consortium (PCGC): whole exome sequences, targeted sequences, and SNP array data - [phs001843](./study.cgi?study_id=phs001843) PCGC-CMG Collaboration: whole genome sequences  

The Gabriella Miller Kids First Pediatric Research Program (Kids First) subset of the PCGC project (phs001194) is now accessible through a separate dbGaP study accession: [phs001138](./study.cgi?study_id=phs001138). To access this dataset, please submit a Data Access Request (DAR) for phs001138. Approval of this DAR will be expedited for approved users of phs001194. To learn about other Kids First datasets visit [https://kidsfirstdrc.org/](https://kidsfirstdrc.org/).
DOI: 10.60645/bdc-7r59-5146
title: Pediatric Cardiac Genetics Consortium (PCGC) Study

description: 
Multi-center, prospective observational cohort study of individuals with congenital heart defects (CHD). Phenotypic data and source DNA derived from 10,000 probands, parents, and families of interest are being collected to investigate relationships between genetic factors and phenotypic and clinical outcomes in patients with CHD.

The PCGC Cohort is utilized in the following dbGaP substudies. To view genotypes, 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 phs001194 PCGC Cohort.  - [phs000571](./study.cgi?study_id=phs000571) The Pediatric Cardiac Genetics Consortium (PCGC): whole exome sequences, targeted sequences, and SNP array data - [phs001843](./study.cgi?study_id=phs001843) PCGC-CMG Collaboration: whole genome sequences  

The Gabriella Miller Kids First Pediatric Research Program (Kids First) subset of the PCGC project (phs001194) is now accessible through a separate dbGaP study accession: [phs001138](./study.cgi?study_id=phs001138). To access this dataset, please submit a Data Access Request (DAR) for phs001138. Approval of this DAR will be expedited for approved users of phs001194. To learn about other Kids First datasets visit [https://kidsfirstdrc.org/](https://kidsfirstdrc.org/).
DOI: 10.60645/bdc-o5cz-b8ua
title: Pediatric Cardiac Genetics Consortium (PCGC) Study

description: 
Multi-center, prospective observational cohort study of individuals with congenital heart defects (CHD). Phenotypic data and source DNA derived from 10,000 probands, parents, and families of interest are being collected to investigate relationships between genetic factors and phenotypic and clinical outcomes in patients with CHD.

The PCGC Cohort is utilized in the following dbGaP substudies. To view genotypes, 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 phs001194 PCGC Cohort.  - [phs000571](./study.cgi?study_id=phs000571) The Pediatric Cardiac Genetics Consortium (PCGC): whole exome sequences, targeted sequences, and SNP array data - [phs001843](./study.cgi?study_id=phs001843) PCGC-CMG Collaboration: whole genome sequences  

The Gabriella Miller Kids First Pediatric Research Program (Kids First) subset of the PCGC project (phs001194) is now accessible through a separate dbGaP study accession: [phs001138](./study.cgi?study_id=phs001138). To access this dataset, please submit a Data Access Request (DAR) for phs001138. Approval of this DAR will be expedited for approved users of phs001194. To learn about other Kids First datasets visit [https://kidsfirstdrc.org/](https://kidsfirstdrc.org/).
DOI: 10.60645/bdc-v73i-n080
title: Pediatric Cardiac Genetics Consortium (PCGC) Study

description: 
Multi-center, prospective observational cohort study of individuals with congenital heart defects (CHD). Phenotypic data and source DNA derived from 10,000 probands, parents, and families of interest are being collected to investigate relationships between genetic factors and phenotypic and clinical outcomes in patients with CHD.

The PCGC Cohort is utilized in the following dbGaP substudies. To view genotypes, 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 phs001194 PCGC Cohort.  - [phs000571](./study.cgi?study_id=phs000571) The Pediatric Cardiac Genetics Consortium (PCGC): whole exome sequences, targeted sequences, and SNP array data - [phs001843](./study.cgi?study_id=phs001843) PCGC-CMG Collaboration: whole genome sequences  

The Gabriella Miller Kids First Pediatric Research Program (Kids First) subset of the PCGC project (phs001194) is now accessible through a separate dbGaP study accession: [phs001138](./study.cgi?study_id=phs001138). To access this dataset, please submit a Data Access Request (DAR) for phs001138. Approval of this DAR will be expedited for approved users of phs001194. To learn about other Kids First datasets visit [https://kidsfirstdrc.org/](https://kidsfirstdrc.org/).
DOI: 10.60645/bdc-1887-302y
title: NHLBI TOPMed: African American Sarcoidosis Genetics Resource

description: 
This study aims to comprehensively interrogate the genomes of African American sarcoidosis families. Sarcoidosis is characterized by a hyperimmune response resulting in granuloma formation in multiple organs. It affects African Americans (AAs) more frequently and more severely than whites. While previous linkage, admixture, candidate gene and genome-wide association (GWA) studies show statistically compelling effects, causal variants are still unknown and much of sarcoidosis heritability is yet to be explained. This "missing" heritability likely includes effects of both common (minor allele frequency (MAF)&gt;5%) and rare variants (MAF&lt;5%), since, in AAs, the former are inadequately represented and the latter are completely unexplored by commercial genotyping arrays. These facts, coupled with the availability of next-generation sequencing compel us to perform an exhaustive search for genetic variants that form the basis of sarcoidosis. The data generated are certain to identify candidate causal variants, provide fundamental insight for functional studies and lead to important new hypotheses of inflammation resulting in new treatments in not only sarcoidosis but other inflammatory diseases as well.
DOI: 10.60645/bdc-yt94-n506
title: NHLBI TOPMed - NHGRI CCDG: Atherosclerosis Risk in Communities (ARIC)

description: 
 Participants from the Atherosclerosis Risk in Communities (ARIC) Study, a large population-based longitudinal cohort study, have been included in this Project and whole genome sequencing will be performed to contribute to analyses of early-onset atrial fibrillation and venous thromboembolism. Additional phenotype and genotype data are available for these individuals on dbGaP and can be accessed through the parent ARIC Cohort accession ([phs000280](study.cgi?study_id=phs000280)). The National Heart, Lung and Blood Institute (NHLBI) Trans-Omics for Precision Medicine (TOPMed) program is designed to generate scientific resources to enhance understanding of fundamental biological processes that underlie heart, lung, blood and sleep disorders (HLBS). It is part of a broader Precision Medicine Initiative, which aims to provide disease treatments that are tailored to an individual's unique genes and environment. TOPMed will contribute to this initiative through the integration of whole genome sequencing (WGS) and other -omics (e.g., metabolic profiles, protein and RNA expression patterns) data with molecular, behavioral, imaging, environmental, and clinical data. In doing so, this program seeks to uncover factors that increase or decrease the risk of disease, identify subtypes of disease, and develop more targeted and personalized treatments. The Whole Genome Sequencing (WGS) Project is part of NHLBI's TOPMed program and serves as an initial step for the larger initiative.