cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.60645/bdc-855b-uk9q
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-dpn5-q9qy
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-6544-2323
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-o586-57w4
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-6p7z-m5gd
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-k62c-q31a
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-46y8-81d6
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-04q2-86s3
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-w08f-2nj6
title: NHLBI TOPMed: Outcome Modifying Genes in Sickle Cell Disease (OMG)

description: Sickle cell disease (SCD) is caused by homozygosity for a single mutation of the beta hemoglobin gene. Despite the constancy of this genetic abnormality, the clinical course of patients with SCD is remarkably variable. SCD can affect the function and cause the failure of multiple organ systems through the pathophysiologic processes of vaso-occlusion and hemolysis. These pathophysiological processes are complex and expected to impact multiple organ systems in a variety of ways. This study, therefore, was designed to identify genetic factors that predispose SCD patients to develop specific end-organ complications and to experience more or less severe clinical courses. We enrolled > 700 patients with Hb SS, Hb S-beta0 thalassemia and HbSC being followed primarily at three southeastern U.S. regional institutions (Duke University Medical Center, University of North Carolina Medical Center, and Emory University Medical Center). Medical information obtained included the presence or absence of specific targeted outcomes (overall disease severity as well as specific types of end organ damage). Clinical data include medical status (history, physical, examination, and laboratory results) and information regarding potentially confounding environmental factors. Limited plasma samples are available for correlative studies (e.g. of cytokine levels, coagulation activation). Targeted SNP for candidate gene analysis as well as GWAS has been performed on most samples. Whole genome sequencing has been conducted through the TOPMed Consortium. The subjects in this analysis were collected as part of a larger study, "Outcome Modifying Genes in Sickle Cell Disease" (OMG-SCD) aimed at identifying genetic modifiers for sickle cell disease. More information about the study can be found in Elmariah et al. (2014), PMID: 24478166. Clinical and genetic data have been used to identify genetic characteristics predisposing patients with SCD to a more or less severe overall clinical course as well as to individual organ-specific complications. It is anticipated that identification of such genetic factors will reveal new therapeutic targets individualized to specific complications of SCD, leading to improved outcomes and increased life expectancy for patients with SCD.
DOI: 10.60645/bdc-7t7d-3uv7
title: NHLBI TOPMed: Outcome Modifying Genes in Sickle Cell Disease (OMG)

description: 
Sickle cell disease (SCD) is caused by homozygosity for a single mutation of the beta hemoglobin gene. Despite the constancy of this genetic abnormality, the clinical course of patients with SCD is remarkably variable. SCD can affect the function and cause the failure of multiple organ systems through the pathophysiologic processes of vaso-occlusion and hemolysis. These pathophysiological processes are complex and expected to impact multiple organ systems in a variety of ways. This study, therefore, was designed to identify genetic factors that predispose SCD patients to develop specific end-organ complications and to experience more or less severe clinical courses. We enrolled &gt; 700 patients with Hb SS, Hb S-beta<sup>0</sup> thalassemia and HbSC being followed primarily at three southeastern U.S. regional institutions (Duke University Medical Center, University of North Carolina Medical Center, and Emory University Medical Center). Medical information obtained included the presence or absence of specific targeted outcomes (overall disease severity as well as specific types of end organ damage). Clinical data include medical status (history, physical, examination, and laboratory results) and information regarding potentially confounding environmental factors. Limited plasma samples are available for correlative studies (e.g. of cytokine levels, coagulation activation). Targeted SNP for candidate gene analysis as well as GWAS has been performed on most samples. Whole genome sequencing has been conducted through the TOPMed Consortium. The subjects in this analysis were collected as part of a larger study, "Outcome Modifying Genes in Sickle Cell Disease" (OMG-SCD) aimed at identifying genetic modifiers for sickle cell disease. More information about the study can be found in Elmariah et al. (2014), PMID: [24478166](https://www.ncbi.nlm.nih.gov/pubmed/24478166). Clinical and genetic data have been used to identify genetic characteristics predisposing patients with SCD to a more or less severe overall clinical course as well as to individual organ-specific complications. It is anticipated that identification of such genetic factors will reveal new therapeutic targets individualized to specific complications of SCD, leading to improved outcomes and increased life expectancy for patients with SCD.
DOI: 10.60645/bdc-a6u1-x82q
title: NHLBI TOPMed: Coronary Artery Risk Development in Young Adults (CARDIA)

description: 
CARDIA is a study examining the etiology and natural history of cardiovascular disease beginning in young adulthood. In 1985-1986, a cohort of 5115 healthy black and white men and women, aged 18-30 years, were selected to have approximately the same number of people in subgroups of age (18-24 and 25-30), sex, race, and education (high school or less, and more than high school) within each of four US Field Centers. These same participants were asked to participate in follow-up examinations during 1987-1988 (Year 2), 1990-1991 (Year 5), 1992-1993 (Year 7), 1995-1996 (Year 10), 2000-2001 (Year 15), 2005-2006 (Year 20), 2010-2011 (Year 25) and 2015-2016 (Year 30). In addition to the follow-up examinations, participants are contacted regularly for the ascertainment of information on out-patient procedures and hospitalizations experienced between contacts. Within the past five years, 95% of the original surviving cohort has been contacted.

While the specifics of each examination have differed somewhat, data have been collected on a variety of factors believed to be related to heart disease. These include conditions with clear links to heart disease, such as blood pressure, cholesterol and other lipids. Data have also been collected on physical measurements, such as weight and skinfold fat, as well as lifestyle factors such as substance use (tobacco and alcohol), dietary and exercise patterns, behavioral and psychological variables, medical and family history, and other chemistries (e.g., insulin and glucose). In addition, subclinical atherosclerosis was measured via echocardiography during Years 5, 10, and 25, computed tomography during Years 15 and 20, and carotid ultrasound during Year 20.

Comprehensive phenotypic data for study participants are available through dbGaP [phs000285](study.cgi?study_id=phs000285).<br>
DOI: 10.60645/bdc-7b28-2j30
title: NHLBI TOPMed: Coronary Artery Risk Development in Young Adults (CARDIA)

description: 
CARDIA is a study examining the etiology and natural history of cardiovascular disease beginning in young adulthood. In 1985-1986, a cohort of 5115 healthy black and white men and women, aged 18-30 years, were selected to have approximately the same number of people in subgroups of age (18-24 and 25-30), sex, race, and education (high school or less, and more than high school) within each of four US Field Centers. These same participants were asked to participate in follow-up examinations during 1987-1988 (Year 2), 1990-1991 (Year 5), 1992-1993 (Year 7), 1995-1996 (Year 10), 2000-2001 (Year 15), 2005-2006 (Year 20), 2010-2011 (Year 25) and 2015-2016 (Year 30). In addition to the follow-up examinations, participants are contacted regularly for the ascertainment of information on out-patient procedures and hospitalizations experienced between contacts. Within the past five years, 95% of the original surviving cohort has been contacted.

While the specifics of each examination have differed somewhat, data have been collected on a variety of factors believed to be related to heart disease. These include conditions with clear links to heart disease, such as blood pressure, cholesterol and other lipids. Data have also been collected on physical measurements, such as weight and skinfold fat, as well as lifestyle factors such as substance use (tobacco and alcohol), dietary and exercise patterns, behavioral and psychological variables, medical and family history, and other chemistries (e.g., insulin and glucose). In addition, subclinical atherosclerosis was measured via echocardiography during Years 5, 10, and 25, computed tomography during Years 15 and 20, and carotid ultrasound during Year 20.

Comprehensive phenotypic data for study participants are available through dbGaP [phs000285](study.cgi?study_id=phs000285).<br>
DOI: 10.6084/m9.figshare.30746768.v2
title: FIGURES AND TABLES CHAPTER III - PHD DISSERTATION SIMONE CALDARONI

description: FIGURES AND TABLES CHAPTER III - PHD DISSERTATION SIMONE CALDARONI
DOI: 10.60645/bdc-o17g-470b
title: NHLBI TOPMed: Coronary Artery Risk Development in Young Adults (CARDIA)

description: 
CARDIA is a study examining the etiology and natural history of cardiovascular disease beginning in young adulthood. In 1985-1986, a cohort of 5115 healthy black and white men and women, aged 18-30 years, were selected to have approximately the same number of people in subgroups of age (18-24 and 25-30), sex, race, and education (high school or less, and more than high school) within each of four US Field Centers. These same participants were asked to participate in follow-up examinations during 1987-1988 (Year 2), 1990-1991 (Year 5), 1992-1993 (Year 7), 1995-1996 (Year 10), 2000-2001 (Year 15), 2005-2006 (Year 20), 2010-2011 (Year 25) and 2015-2016 (Year 30). In addition to the follow-up examinations, participants are contacted regularly for the ascertainment of information on out-patient procedures and hospitalizations experienced between contacts. Within the past five years, 95% of the original surviving cohort has been contacted.

While the specifics of each examination have differed somewhat, data have been collected on a variety of factors believed to be related to heart disease. These include conditions with clear links to heart disease, such as blood pressure, cholesterol and other lipids. Data have also been collected on physical measurements, such as weight and skinfold fat, as well as lifestyle factors such as substance use (tobacco and alcohol), dietary and exercise patterns, behavioral and psychological variables, medical and family history, and other chemistries (e.g., insulin and glucose). In addition, subclinical atherosclerosis was measured via echocardiography during Years 5, 10, and 25, computed tomography during Years 15 and 20, and carotid ultrasound during Year 20.

Comprehensive phenotypic data for study participants are available through dbGaP [phs000285](study.cgi?study_id=phs000285).<br>
DOI: 10.60645/bdc-2263-agj0
title: NHLBI TOPMed: Coronary Artery Risk Development in Young Adults (CARDIA)

description: 
CARDIA is a study examining the etiology and natural history of cardiovascular disease beginning in young adulthood. In 1985-1986, a cohort of 5115 healthy black and white men and women, aged 18-30 years, were selected to have approximately the same number of people in subgroups of age (18-24 and 25-30), sex, race, and education (high school or less, and more than high school) within each of four US Field Centers. These same participants were asked to participate in follow-up examinations during 1987-1988 (Year 2), 1990-1991 (Year 5), 1992-1993 (Year 7), 1995-1996 (Year 10), 2000-2001 (Year 15), 2005-2006 (Year 20), 2010-2011 (Year 25) and 2015-2016 (Year 30). In addition to the follow-up examinations, participants are contacted regularly for the ascertainment of information on out-patient procedures and hospitalizations experienced between contacts. Within the past five years, 95% of the original surviving cohort has been contacted.

While the specifics of each examination have differed somewhat, data have been collected on a variety of factors believed to be related to heart disease. These include conditions with clear links to heart disease, such as blood pressure, cholesterol and other lipids. Data have also been collected on physical measurements, such as weight and skinfold fat, as well as lifestyle factors such as substance use (tobacco and alcohol), dietary and exercise patterns, behavioral and psychological variables, medical and family history, and other chemistries (e.g., insulin and glucose). In addition, subclinical atherosclerosis was measured via echocardiography during Years 5, 10, and 25, computed tomography during Years 15 and 20, and carotid ultrasound during Year 20.

Comprehensive phenotypic data for study participants are available through dbGaP [phs000285](study.cgi?study_id=phs000285).<br>
DOI: 10.60645/bdc-d7a3-7834
title: WHI Long Life Study Phase III GWAS Data

description: 
**Introduction/Intent**

7,875 WHI Extension II Study participants participated in the WHI Long Life Study (LLS). The LLS consisted of a one-time in-person visit (conducted between March 2012 and May 2013) with a blood draw, a brief clinical assessment, and an assessment of functional status.

**Primary aims of the blood collection:**

  - Establish a repository of new baseline biospecimen on this cohort - Replenish the WHI biospecimen resource for members of this cohort with a new source of good quality extracted DNA and RNA, plasma, serum, and RBCs for future standard clinical laboratory assays as well as cytokines, proteomics, metabolomics, and other assays that have yet to be imagined - Obtain CBC and metabolic/CVD biomarker data <ol> <li>**CVD biomarkers:** glucose, insulin, creatinine, CRP, HDL, LDL, triglyceride, cholesterol - **CBC:** A total of 26 variables were reported, including hematocrit, hemoglobin, WBC/RBC/platelet counts, WBC differential (automated), numerous indices  </li> </ol> 

**Materials/Methods**

The LLS appointment protocol included a blood draw (~31 ml): 8.5ml EDTA Plasma Separator Tube (PST; catalog # BD362799), 2ml EDTA (catalog # BD367841), 10ml EDTA (catalog # BD366443), 8.5ml Serum Separator Tube (SST; catalog # BD367988), PAXgene (catalog # BD762165)

The PPT and SST were centrifuged by data collectors near the data collection site within two hours of the blood draw. All blood vials and corresponding data forms were shipped via FedEx priority overnight to arrive at the FHCRC Specimen Processing Lab (SPL) the next day. SPL processed the blood vials according to the [[LLS Blood Collection Protocol](https://www.whi.org/about/Long Life Study Materials/Blood Protocol Synopsis 012512.pdf).]. Aliquots were frozen and shipped to the WHI Biorepository (Fisher Bioservices, Rockville, MD) for long term storage at -80 &#176;C.

One of the serum aliquots for each participant was sent from the WHI Biorepository to the [University of Minnesota Fairview ARDL Lab](http://www.med.umn.edu/ardl/) for CVD biomarker testing within approximately 6-12 months of the draw date.

The 2ml EDTA vial was delivered to the Seattle Cancer Care Alliance (SCCA) hematology lab soon after receipt at SPL. The SCCA performed the CBC upon receipt.

**Results**

Of the 7,875 LLS participants, 7,325 (93%) have CVD biomarkers available (glucose, insulin, creatinine, CRP, HDL, LDL, triglyceride, cholesterol) and 7,406 (94%) have CBC data.

The WHI Lab Working Group (LWG) reviewed the blind duplicate data for the CVD Biomarkers and a comparison of the WHI clinic CBC data to the W64 CBC data. Both datasets were approved for release to the WHI investigator&#39;s dataset. The data is available [[Here](https://www.whi.org/researchers/data/Pages/Available Data.aspx)] for approved users.
DOI: 10.60645/bdc-2q0j-5f1f
title: WHI Long Life Study Phase III GWAS Data

description: 
**Introduction/Intent**

7,875 WHI Extension II Study participants participated in the WHI Long Life Study (LLS). The LLS consisted of a one-time in-person visit (conducted between March 2012 and May 2013) with a blood draw, a brief clinical assessment, and an assessment of functional status.

**Primary aims of the blood collection:**

  - Establish a repository of new baseline biospecimen on this cohort - Replenish the WHI biospecimen resource for members of this cohort with a new source of good quality extracted DNA and RNA, plasma, serum, and RBCs for future standard clinical laboratory assays as well as cytokines, proteomics, metabolomics, and other assays that have yet to be imagined - Obtain CBC and metabolic/CVD biomarker data <ol> <li>**CVD biomarkers:** glucose, insulin, creatinine, CRP, HDL, LDL, triglyceride, cholesterol - **CBC:** A total of 26 variables were reported, including hematocrit, hemoglobin, WBC/RBC/platelet counts, WBC differential (automated), numerous indices  </li> </ol> 

**Materials/Methods**

The LLS appointment protocol included a blood draw (~31 ml): 8.5ml EDTA Plasma Separator Tube (PST; catalog # BD362799), 2ml EDTA (catalog # BD367841), 10ml EDTA (catalog # BD366443), 8.5ml Serum Separator Tube (SST; catalog # BD367988), PAXgene (catalog # BD762165)

The PPT and SST were centrifuged by data collectors near the data collection site within two hours of the blood draw. All blood vials and corresponding data forms were shipped via FedEx priority overnight to arrive at the FHCRC Specimen Processing Lab (SPL) the next day. SPL processed the blood vials according to the [[LLS Blood Collection Protocol](https://www.whi.org/about/Long Life Study Materials/Blood Protocol Synopsis 012512.pdf).]. Aliquots were frozen and shipped to the WHI Biorepository (Fisher Bioservices, Rockville, MD) for long term storage at -80 &#176;C.

One of the serum aliquots for each participant was sent from the WHI Biorepository to the [University of Minnesota Fairview ARDL Lab](http://www.med.umn.edu/ardl/) for CVD biomarker testing within approximately 6-12 months of the draw date.

The 2ml EDTA vial was delivered to the Seattle Cancer Care Alliance (SCCA) hematology lab soon after receipt at SPL. The SCCA performed the CBC upon receipt.

**Results**

Of the 7,875 LLS participants, 7,325 (93%) have CVD biomarkers available (glucose, insulin, creatinine, CRP, HDL, LDL, triglyceride, cholesterol) and 7,406 (94%) have CBC data.

The WHI Lab Working Group (LWG) reviewed the blind duplicate data for the CVD Biomarkers and a comparison of the WHI clinic CBC data to the W64 CBC data. Both datasets were approved for release to the WHI investigator&#39;s dataset. The data is available [[Here](https://www.whi.org/researchers/data/Pages/Available Data.aspx)] for approved users.
DOI: 10.15468/dl.jqfafp
title: Occurrence Download

description: A dataset containing 20132457 species occurrences available in GBIF matching the query:
{
 "and" : [
 "TaxonKey is Tracheophyta",
 "HasCoordinate is true",
 "Year is greater than or equal to 2020",
 "Year is less than or equal to 2024",
 "Geometry POLYGON((-25.0 49.0, 45.0 49.0, 45.0 54.0, -25.0 54.0, -25.0 49.0))"
 ]
}

 The dataset includes 20132457 records from 516 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0016285-260129131611470/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.60645/bdc-v3ek-2602
title: NHLBI TOPMed - NHGRI CCDG: The Vanderbilt University BioVU Atrial Fibrillation Genetics Study

description: Atrial fibrillation (also called AFib or AF) is a quivering or irregular heartbeat (arrhythmia) that can lead to blood clots, stroke, heart failure and other heart-related complications. At least 2.7 million Americans are living with AFib. Individuals with early onset atrial fibrillation (AF) are included in this study of cases from the BioVU sample repository. BioVU is Vanderbilt's biobank of DNA extracted from leftover and otherwise discarded clinical blood specimens. BioVU operates as a consented biorepository; all individuals must sign the BioVU consent form in order to donate future specimens. BioVU subjects are de-identified and linked to the Synthetic Derivative enabling researchers to access genetic data/DNA material as well as dense, longitudinal electronic medical record (EMR) information.
DOI: 10.60645/bdc-99m4-5wyo
title: NHLBI TOPMed - NHGRI CCDG: The Vanderbilt University BioVU Atrial Fibrillation Genetics Study

description: 
Atrial fibrillation (also called AFib or AF) is a quivering or irregular heartbeat (arrhythmia) that can lead to blood clots, stroke, heart failure and other heart-related complications. At least 2.7 million Americans are living with AFib. Individuals with early onset atrial fibrillation (AF) are included in this study of cases from the BioVU sample repository. BioVU is Vanderbilt's biobank of DNA extracted from leftover and otherwise discarded clinical blood specimens. BioVU operates as a consented biorepository; all individuals must sign the BioVU consent form in order to donate future specimens. BioVU subjects are de-identified and linked to the Synthetic Derivative enabling researchers to access genetic data/DNA material as well as dense, longitudinal electronic medical record (EMR) information.