cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.60645/bdc-4bk1-8i72
title: Benign Ethnic Neutropenia/Leukopenia (BEN) in African-Americans

description: 
Benign ethnic neutropenia (BEN) is a clinical condition more commonly observed in African-Americans. It is characterized by a relative reduction in neutrophil count by about 1000 cells per microliter, leading to a decrease in total leukocyte count by similar decrement. Previous reports of this condition showed that there was neither higher frequency nor increased severity of infections in affected individuals. Bone marrow examinations showed normal white cell maturation; and ex vivo culture of marrow cells showed low normal or slightly reduced number of myeloid colonies. Under physiologic stress, the increases in neutrophil and leukocyte counts of BEN individuals are slightly lower, compared to normal African-Americans or Caucasians. These clinical observations suggest that BEN results from a lower &#39;set point&#39; for cell number in the marrow. Additionally, case reports of familial BEN, the persistence of BEN over many decades in the US, UK, and Africa, and the recent report of Duffy antigen and chemokine receptor (DARC) being associated with neutropenia, all suggest a strong genetic association to neutropenia/leukopenia. Our initial look into microarray analyses in a pilot trial of subjects showed that there were no significant differences in mRNA signals between BEN and normal subjects. Therefore, we are now proposing a larger study, utilizing Illumina Omni Express chips, to look for genetic associations. We have partnered with the Reasons for Geographic and Racial Differences in Stroke study (REGARDS), where nearly half of the cohort are African-Americans. This will be one of the few GWAS being performed in only African-Americans, and will provide valuable genetic information to link with neutropenia and possibly other conditions/diseases.

Genotyping was performed by the Johns Hopkins University Center for Inherited Disease Research (CIDR). Quality control of the genotypic and phenotypic data was performed through a collaboration between CIDR and the Genetics Coordinating Center, Department of Biostatistics at the University of Washington, which is funded by a federal contract supported by 14 NIH Institutes (HHSN268200782096C).
DOI: 10.60645/bdc-z0d3-xhw7
title: NHLBI GO-ESP Family Studies: Idiopathic Bronchiectasis

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.

The major goal of this project is to apply next generation resequencing technology to identify disease-causing variants that cause bronchiectasis of unknown etiology (e.g. non cystic fibrosis (CF), classic primary ciliary dyskinesia (PCD), immune deficiency, or any other known cause of bronchiectasis), i.e., "idiopathic bronchiectasis."

As part of our ongoing efforts to define the genetic cause of rare lung diseases, we have also studied families in whom diagnosis of PCD or other known etiologies could not be confirmed. We have systematically collected and stored the DNA and phenotypic data on each of the families in our cohort. The phenotypic data includes age, gender, ethnicity information, clinical data pertaining to the airways disease, including neonatal respiratory distress, otitis media, sinusitis and bronchiectasis, ciliary ultrastructure analysis, and microbial colonization (status of nontuberculosis mycobacterium). During the course of our study, we have acquired 98 unrelated patients in whom bronchiectasis seemed to be of unknown causes. We will be using 11 unrelated patients, 5 unrelated affected sib-pairs, and 3 affected sibs from a family from this cohort, based on 1) development of bronchiectasis in the absence of smoking, 2) a good family pedigree with available DNA, and 3) a family history of bronchiectasis and/or occurrence of airways disease in a sibling. Classic CF, PCD and immune deficiency were ruled out, based on the tests described above. Alpha-1 antiprotease deficiency work up was negative and none of the patients were tobacco users or smokers.
DOI: 10.60645/bdc-n17d-c667
title: Familial Exome Sequencing in Rare Pediatric Phenotypes

description: 
To discover novel candidate genes associated with rare Mendelian phenotypes, we will conduct individual genomic and phenotypic characterization using genome-wide array, pedigree exome sequencing, candidate genotyping, and pertinent clinical testing to define phenotype. Pedigrees included in this submission will have a variety of clinical pathological phenotypes.
DOI: 10.60645/bdc-g1sa-47kx
title: Population Architecture using Genomics and Epidemiology (PAGE): Causal Variants Across the Life Course (CALiCo): Hispanic Community Health Study / Study of Latinos (HCHS/SOL)

description: 
This sub-study [phs000555](study.cgi?study_id=phs000555) PAGE CALiCo SOL contains genotype data and selected phenotype of subjects available from the [phs000555](study.cgi?study_id=phs000555). Summary level phenotypes for the NHLBI HCHS SOL Cohort study participants can be viewed at the top-level study page [phs000810](study.cgi?study_id=phs000810) HCHS SOL Cohort. Individual level phenotype data and molecular data for all HCHS SOL Cohort top-level study and sub-study are available by requesting Authorized Access to the NHLBI HCHS SOL Cohort [phs000810](study.cgi?study_id=phs000810) study.

**PAGE CALiCo SOL**<br>

The Hispanic Community Health Study / Study of Latinos (HCHS/SOL) is a multi-center epidemiologic study in Hispanic/Latino populations to determine the role of acculturation in the prevalence and development of disease, and to identify risk factors playing a protective or harmful role in Hispanics/Latinos. The study is sponsored by the National Heart, Lung, and Blood Institute (NHLBI) and six other institutes, centers, and offices of the National Institutes of Health (NIH).

The population of 16,000 persons of Hispanic/Latino origin, specifically Cuban, Puerto Rican, Mexican, and Central/South American, was recruited through four Field Centers affiliated with San Diego State University, Northwestern University in Chicago, Albert Einstein College of Medicine in the Bronx area of New York, and the University of Miami. Seven additional academic centers serve as scientific and logistical support centers.

Study participants aged 18-74 years completed an extensive clinic exam and assessments to determine baseline risk factors. Annual follow-up interviews are conducted to determine health outcomes of interest. Study results are disseminated through scientific journals and also conveyed to the communities involved in the study in order to improve public health at the local level.

This study is part of the Population Architecture using Genomics and Epidemiology (PAGE) study ([phs000356](study.cgi?study_id=phs000356)).
DOI: 10.60645/bdc-4li1-43b3
title: Population Architecture using Genomics and Epidemiology (PAGE): Causal Variants Across the Life Course (CALiCo): Hispanic Community Health Study / Study of Latinos (HCHS/SOL)

description: 
This sub-study [phs000555](study.cgi?study_id=phs000555) PAGE CALiCo SOL contains genotype data and selected phenotype of subjects available from the [phs000555](study.cgi?study_id=phs000555). Summary level phenotypes for the NHLBI HCHS SOL Cohort study participants can be viewed at the top-level study page [phs000810](study.cgi?study_id=phs000810) HCHS SOL Cohort. Individual level phenotype data and molecular data for all HCHS SOL Cohort top-level study and sub-study are available by requesting Authorized Access to the NHLBI HCHS SOL Cohort [phs000810](study.cgi?study_id=phs000810) study.

**PAGE CALiCo SOL**<br>

The Hispanic Community Health Study / Study of Latinos (HCHS/SOL) is a multi-center epidemiologic study in Hispanic/Latino populations to determine the role of acculturation in the prevalence and development of disease, and to identify risk factors playing a protective or harmful role in Hispanics/Latinos. The study is sponsored by the National Heart, Lung, and Blood Institute (NHLBI) and six other institutes, centers, and offices of the National Institutes of Health (NIH).

The population of 16,000 persons of Hispanic/Latino origin, specifically Cuban, Puerto Rican, Mexican, and Central/South American, was recruited through four Field Centers affiliated with San Diego State University, Northwestern University in Chicago, Albert Einstein College of Medicine in the Bronx area of New York, and the University of Miami. Seven additional academic centers serve as scientific and logistical support centers.

Study participants aged 18-74 years completed an extensive clinic exam and assessments to determine baseline risk factors. Annual follow-up interviews are conducted to determine health outcomes of interest. Study results are disseminated through scientific journals and also conveyed to the communities involved in the study in order to improve public health at the local level.

This study is part of the Population Architecture using Genomics and Epidemiology (PAGE) study ([phs000356](study.cgi?study_id=phs000356)).
DOI: 10.60645/bdc-72h5-mrde
title: PCGC: Congenital Heart Disease Genetic Network Study

description: 
This substudy phs000571 PCGC contains whole exome sequences, targeted sequences, and SNP array data. Summary level phenotypes for the PCGC Cohort study participants can be viewed at the top-level study page [phs001194](./study.cgi?study_id=phs001194) PCGC Cohort. Individual level phenotype data and molecular data for all PCGC top-level study and substudies are available by requesting Authorized Access to the PCGC Cohort study [phs001194](./study.cgi?study_id=phs001194). 

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.
DOI: 10.60645/bdc-6695-gf8f
title: PCGC: Congenital Heart Disease Genetic Network Study

description: 
This substudy phs000571 PCGC contains whole exome sequences, targeted sequences, and SNP array data. Summary level phenotypes for the PCGC Cohort study participants can be viewed at the top-level study page [phs001194](./study.cgi?study_id=phs001194) PCGC Cohort. Individual level phenotype data and molecular data for all PCGC top-level study and substudies are available by requesting Authorized Access to the PCGC Cohort study [phs001194](./study.cgi?study_id=phs001194). 

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.
DOI: 10.60645/bdc-iwp5-eb9q
title: National Heart, Lung, and Blood Institute (NHLBI) Bench to Bassinet Program: The Pediatric Cardiac Genetics Consortium (PCGC)

description: 
This substudy phs000571 PCGC contains whole exome sequences, targeted sequences, and SNP array data. Summary level phenotypes for the PCGC Cohort study participants can be viewed at the top-level study page [phs001194](./study.cgi?study_id=phs001194) PCGC Cohort. Individual level phenotype data and molecular data for all PCGC top-level study and substudies are available by requesting Authorized Access to the PCGC Cohort study [phs001194](./study.cgi?study_id=phs001194). 

Multi-center, prospective observational cohort study of individuals with congenital heart defects (CHD). Phenotypic data and source DNA derived from 15,000+ probands, parents, and families of interest are being collected to investigate relationships between genetic factors and phenotypic and clinical outcomes in patients with CHD.
DOI: 10.60645/bdc-mah2-l958
title: National Heart, Lung, and Blood Institute (NHLBI) Bench to Bassinet Program: The Pediatric Cardiac Genetics Consortium (PCGC)

description: 
This substudy phs000571 PCGC contains whole exome sequences, targeted sequences, and SNP array data. Summary level phenotypes for the PCGC Cohort study participants can be viewed at the top-level study page [phs001194](./study.cgi?study_id=phs001194) PCGC Cohort. Individual level phenotype data and molecular data for all PCGC top-level study and substudies are available by requesting Authorized Access to the PCGC Cohort study [phs001194](./study.cgi?study_id=phs001194). 

Multi-center, prospective observational cohort study of individuals with congenital heart defects (CHD). Phenotypic data and source DNA derived from 15,000+ probands, parents, and families of interest are being collected to investigate relationships between genetic factors and phenotypic and clinical outcomes in patients with CHD.
DOI: 10.60645/bdc-5j4k-wenp
title: NHLBI GO-ESP: Family Studies (Dilated Cardiomyopathy)

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.

The goals for this project are to conduct exome sequencing for novel dilated cardiomyopathy (DCM) gene discovery in families with DCM. These families have already been sequenced for 15 DCM genes, accounting for approximately 75% of known genetic cause, without rare coding variants identified.
DOI: 10.60645/bdc-c3d6-76vb
title: NHLBI GO-ESP: Family Studies (Mendelian Lipid Disorders)

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.

In this study, we seek to identify the genetic cause of two monogenic lipid disorders-severe hypercholesterolemia and familial hypoalphalipoproteinemia. Monogenic severe hypercholesterolemia is clinically characterized by elevated total and low-density lipoprotein (LDL) cholesterol levels in plasma. Elevated LDL-cholesterol levels lead to excessive deposition of cholesterol in arterial walls, which eventually results in accelerated atherosclerosis and premature cardiovascular disease (CVD). Monogenic hypercholesterolemia has a prevalence of approximately one in 500 individuals, making it one of the most common inherited disorders. To date, mutations in the LDL receptor (LDLR) ligand-binding domains of APOB and PCSK9 have been shown to cause hypercholesterolemia. While mutations in these genes can explain a large percentage of clinically diagnosed patients, the underlying molecular determinant in a substantial fraction of patients remains unknown.

Familial hypoalphalipoproteinemia (low HDL-C) is defined by an HDL-C below the age- and sex- specific 10th percentile. ABCA1, LCAT, and APOA1 are known to cause familial hypoalphalipoproteinemia. We hypothesize that: (1) additional novel genes responsible for Mendelian forms of low HDL-C exist; and (2) the causal gene and mutation(s) in each family may be discovered with exome analysis of just a few affected individuals in each pedigree.
DOI: 10.60645/bdc-o265-yn5u
title: KCNE1Polymorphism as Possible Modulator of Drug-Induced TdP

description: 
The goal of this study was to search for genetic variants that could be responsible for modifying the risk of drug-induced long QT syndrome (diLQTS). diLQTS is a relatively common adverse drug event and has been a leading cause for drug relabeling and withdrawal from the market. Our hypothesis, that variants in genes which regulate electrical properties in the heart modify the risk of diLQTS, was tested by genotyping patients of European descent at 1424 single nucleotide polymorphisms (SNPs) in 18 candidate genes. We found that the SNP KCNE1 D85N was highly predictive of diLQTS with an odds ratio of 9.0 (95% confidence interval: 3.5-22.9).
DOI: 10.60645/bdc-3n4o-9v0h
title: ARDSnet and the iSPAAR Consortium: Genetic Studies

description: 
Acute Respiratory Distress Syndrome (ARDS)/ Acute Lung Injury (ALI) is a syndrome defined by the presence of acute hypoxemic respiratory failure, bilateral pulmonary infiltrates on chest radiograph, a known clinical risk factor (e.g. sepsis, pneumonia, trauma, gastric fluid aspiration, pancreatitis, massive transfusion), and the absence of physiologic or clinical evidence of congestive heart failure.

The Identification of SNPs Predisposing to Altered ALI Risk (iSPAAR) study is a multi-institutional cooperative study, funded through the NHLBI Recovery Act, that assembled samples and phenotype information from existing cohorts.

The consortium included samples from patients with ARDS from the NIH NHLBI ARDS Clinical Trials Network (ARDSNet). Samples were obtained from 3 interventional treatment trials in patients with ARDS, including the Fluid and Catheter Treatment Trial (FACTT), the Albuterol to Treat Acute Lung Injury (ALTA) trial, and the Omega-3 Fatty Acid/Antioxidant Supplementation for ALI trial (Omega).

In addition to ARDSnet samples, samples from the other cohorts included cases of established ARDS but also controls: critically ill patients who were at-risk for ARDS but who did not develop ARDS during their hospital course. These cohorts included the Molecular Epidemiology of Acute Respiratory Distress (MEA) Study enrolled at the Harvard University/Massachusetts General Hospital, the Systemic Inflammatory Immune Response Syndrome (SIRS) Patient Database and ICU Traumatic Injury cohorts from Harborview Medical Center, and cohorts collected from the ALI research programs at the University of Pennsylvania and the University of California, San Francisco.

**The Cohort is utilized in the following dbGaP sub-studies.** To view genotypes, other molecular data, and derived variables collected in these sub-studies, please click on the following sub-studies below or in the "Sub-studies" section of this top-level study page [phs000631](study.cgi?study_id=phs000631) ARDSnet iSPAAR Consortium.  - [phs000334](study.cgi?study_id=phs000334) ESP_LungGO_ALI  - [phs000686](study.cgi?study_id=phs000686) ALI_GeneticRisk
DOI: 10.60645/bdc-0rrn-sn4j
title: Study of Adaptation to Hypoxia in Ethiopian Highlanders

description: 
Although it has long been proposed that genetic factors contribute to adaptation to high altitude, such factors remain largely unverified. Recent advances in high-throughput sequencing have made it feasible to analyze genome-wide patterns of genetic variation in human populations. Since traditionally such studies surveyed only a small fraction of the genome (either exons or a subset of SNPs) or a group of candidate genes, interpretation of the results was limited.

We focused our study on Ethiopian highlander populations, which have been found to be well adapted to high altitudes (~3500m). We sequenced and analyze the genomes of 13 high altitude native Ethiopians: 6 individuals of Oromo heritage living on Bale Plateau (labeled "Oromos"), and 7 individuals residing on the Chennek field in the Simien Mountains (labeled "Amhara").

Our study revealed evolutionarily conserved genes that modulate hypoxia tolerance.
DOI: 10.4121/16847073-ed29-4a0a-8cf7-88c9cfd7bc28
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.