14459 results for ""Pennsylvania+German"+ACS+study+'Socius'+open+access"

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• VIB CCB Translational Genetics Data Access Committee

  Dac EGAC00001003415

• IRIBHM computational biology data access committee

  Dac EGAC00001003436

• Data Access Committee for data from EGAS00001007708

  Dac EGAC00001003486

• Singapore Gastric Cancer Consortium Data Access Committee

  Dac EGAC00001002251

• DAC_ICARUS_BREAST01

  Data access committee for ICARUS BREAST 01

  Dac EGAC50000000344

• Genome Asia 100K Consortium

  Dac EGAC00001001439

• Department of Gastroenterology and Hepatology Data Access Committee

  Dac EGAC00001003021

• HaikaLab Immuno-Oncology research group Data Access Committee

  Dac EGAC50000000387

• Data Access Committee for data from EGAS00001007484

  Dac EGAC00001003459

• Walter and Eliza Hall Institute Research Data Access Committee

  Dac EGAC00001003583

• Pan Prostate Cancer Group Data Access Control Committee

  Dac EGAC00001003628

• Novel optineurin frameshift insertion causing familial frontotemporal dementia and parkinsonism without amyotrophic lateral sclerosis

  Frontotemporal Dementia (FTD) is a common cause of Young Onset Dementia and has diverse clinical manifestations involving behaviour, executive function, language and motor function, including parkinsonism. Up to 50% of FTD patients report a positive family history, supporting a strong genetic basis, particularly in cases with both FTD and amyotrophic lateral sclerosis (FTD-ALS). Mutations in three genes are associated with the majority of familial FTD (fFTD) cases - microtubule associated protein tau gene (MAPT), progranulin gene (PGRN), and hexanucleotide repeat expansions in chromosome 9 open reading frame 72 (C9orf72), whilst mutations in other genes such as optineurin (OPTN) have rarely been reported. Mutations in OPTN have been reported mostly in familial and sporadic cases of ALS, or in rare cases of FTD-ALS, but not in association with pure or predominant FTD and/or parkinsonian phenotype. Here, we report for the first time, a family from the Philippines with 4 affected members harbouring the same OPTN frameshift insertion, presenting with FTD-related phenotypes, including one sibling with predominant parkinsonism resembling corticobasal syndrome. Notably, none of the affected members showed any evidence of motor neuron disease or ALS at the time of writing, both clinically and on electrophysiological testing, expanding the phenotypic spectrum of OPTN mutations. Close follow-up of mutation carriers for the development of new clinical features and wider investigation of additional family members with further genetic analyses will be conducted to investigate the possibility of other genetic modifiers in this family which could explain phenotypic heterogeneity.

  Study EGAS00001005220

• Public Access Defibrillation Community Trial (PAD)(PAD-BioLINCC)

  Data Access NOTE: Please refer to the “Authorized Access” section below for information about how access to the data from this accession differs from many other dbGaP accessions. Objectives The Public Access Defibrillation (PAD) Community Trial sought to evaluate broad implementation of Public Access Defibrillators (PAD) in urban community units. Survival to hospital discharge of participants with out-of-hospital cardiac arrest was the main outcome measure. Survival was compared in community units (e.g., apartment or office buildings, gated communities, sports venues, senior centers, shopping malls) served by non-medical responders trained in CPR and use of automated external defibrillators (AEDs), to units receiving the traditional optimum community standard of care (i.e., rescuers trained to recognize a cardiac emergency, call 911, and initiate CPR). Background Sudden out-of-hospital cardiac arrest (OOH-CA) remains a significant cause of death, in spite of recent declines in overall mortality from cardiovascular disease. Existing methods of emergency resuscitation are inadequate due to time delays inherent in transporting trained responders with defibrillation capabilities to the side of the OOH-CA victim. Existing Emergency Medical Services (EMS) systems typically combine paramedic Emergency Medical Technician (EMT) services with some level of community involvement, such as bystander cardiopulmonary resuscitation (CPR) training. Some communities include automated external defibrillators (AEDs) at isolated sites or in mobile police or fire vehicles. Such an approach typically varies in effectiveness, with an incremental improvement in effectiveness seen in communities that organize and integrate services with the existing EMS system. However, optimal improvement in survival from sudden OOH-CA may require a program that utilizes volunteer non-medical responders (who may not have a traditional duty to respond to an emergency) trained to use AEDs. Participants The PAD trial was a prospective, randomized community based trial. More than 19,000 volunteer responders from 993 community units in 24 North American regions participated. The two study arms had similar unit and volunteer characteristics. Participants with treated out-of-hospital cardiac arrest in the two groups were similar in age (mean: 69.8 years), proportion of men (67 perecnt), rate of cardiac arrest in a public location (70 percent), and rate of witnessed cardiac arrest (72 percent). Conclusions Community units with volunteers trained in CPR and AEDs had significantly more participants surviving to hospital discharge than units with volunteers trained to use CPR only. There were 30 survivors among 128 definite cardiac arrests in the CPR+AED units and 15 survivors among 107 definite cardiac arrests in the CPR only units (p = 0.03). Serious adverse effects were rarely reported. No volunteers received inadvertent shocks, and no participants were shocked unnecessarily. AED maintenance problems were infrequent. A few participating volunteers reported severe stress related to responding to emergency situations. Although residential complexes represented 16% of the units and 29% of the treatable cardiac arrests, only 5% of the survivors were from residential complexes. Such information should be helpful for individual facilities that are considering implementing PAD programs. (NEJM 2004; 351:637-46).

  Study phs003858

• Whole Exome Sequences of Human Embryonic Stem Cell Lines

  Human embryonic stem cells (hESCs) are a powerful tool for the study of human development and can form the basis of cellular disease models or therapies. However, the genetic make-up and stability of hESCs has not been systematically studied at a genome-wide level with single nucleotide resolution. We therefore sequenced the whole exomes of widely available hESCs. The data generated has provided new insights about the nature of acquired variation and the genomic integrity of the cell lines. We anticipate that this online resource will enable investigators to access raw sequencing data in order to interrogate cell lines for different disease and trait-associated genetic variants.

  Study phs001343

• Bacterial Vaginosis, Cervical Immune Cells and HIV Susceptibility

  This was a cross-sectional study to characterize cervical immune cell composition and activation status in the presence versus absence of bacterial vaginosis (BV) using bulk messenger RNA sequencing (mRNA-Seq). Women enrolled in a longitudinal, open cohort study and engaged in a sex work in Mombasa, Kenya, were eligible. On the day of enrollment, participants self-collected vaginal swabs for generation of Gram-stained slide. The slides were scored from 0-10 using the method of Nugent and Hillier; in this system, women with scores of 0-3 are considered to have normal vaginal flora, those with scores of 4-6 are considered to have intermediate flora, and those with scores of 7-10 are considered to have BV. For this study, only women with normal flora (Nugent scores 0-3) or BV (Nugent scores 7-10) were eligible. Participants underwent speculum-assisted pelvic examination and collection of cervical biopsy specimens using Tischler forceps. Biopsies were placed immediately in ice cold medium and transferred to the laboratory where they were weighed and transferred to freezing medium (10% DMSO + fetal bovine serum) and cooled slowly overnight. Samples were shipped from Kenya to the United States in liquid nitrogen dry shippers, collagenase digested into single cell suspensions, and sorted on a FACS aria to enrich for a population of live, CD45+ cells. Sorted samples (N=17 with BV and N=13 without BV) were immediately lysed and processed using the Takara SMART-Seq v4 Ultra Low Input RNA Kit for sequencing. Library generation was completed using the manufacturer's instructions and sequencing performed on an Illumina NextSeq500 platform using Illumina NextSeq 500/550 High Output v2.5 (150 Cycles). The FASTQ files generated and BV status (N=9 with BV and N=12 without BV that passed quality control) of the donor sample will be available on dbGaP. We identified over 1000 differentially expressed genes between women with versus without BV at an adjusted p-value of <0.05 (listed under "gene names" below).

  Study phs002329

• CINECA synthetic data.Please note: This study contains synthetic data (with cohort “participants” / ”subjects” marked with FAKE) has no identifiable data and cannot be used to make any inference about cohort data or results.

  Please note: This study contains synthetic data (with cohort “participants” / ”subjects” marked with FAKE) has no identifiable data and cannot be used to make any inference about cohort data or results. The purpose of this dataset is to aid development of technical implementations for cohort data discovery, harmonization, access, and federated analysis. In support of FAIRness in data sharing, this dataset is made freely available under the Creative Commons Licence (CC-BY). Please ensure this preamble is included with this dataset and that the CINECA project (funding: EC H2020 grant 825775) is acknowledged. For any questions please contact isuru@ebi.ac.uk or cthomas@ebi.ac.uk

  Study EGAS00001002472

• LUD2015-005 Trial Data Access Committee

  Dac EGAC00001002863

• THE NOWAC BLOOD-BREAST CANCER COMMITEE DATA ACCESS AGREEMENT

  Dac EGAC00001000743

• Board considering access to van Hijfte snRNA-seq GBM dataset

  Dac EGAC00001003044

• Genomics of MPNST (GeM) Consortium Data Access Committee

  Dac EGAC00001002563

• Thirant et al Nature Communications 2023 Data Access Commitee

  Dac EGAC00001003192

• European Network of Genomic and Genetic Epidemiology Data Access Committee

  Dac EGAC00000000008

• "Data Access Center Cancer Genomics Group"

  Dac EGAC00001000030

• Cancer Genome Database Data Access Committee (CGDB_DAC)

  Dac EGAC00001000033

• Signal Transduction Team ICR (2011) Data Access Committee

  Dac EGAC00001000040

• UPF - Evolutionary Population Genetics lab Data Access Committee

  Dac EGAC00001000244

• MS-Twin Data Access Committee

  Dac EGAC00001000331

• Coagulation Factor XI GWAS meta-analyses Data Access Committee

  Dac EGAC00001000567

• Data access committee for BAMS exome sequencing data.

  Dac EGAC00001000583

• UK Biobank Access - http://www.ukbiobank.ac.uk/using-the-resource/

  Dac EGAC00001000641

• University Hospital of Basel - Novartis collaboration Data Access Committee

  Dac EGAC00001000747

• JDRF/Wellcome Diabetes and Inflammation Laboratory Data Access Committee

  Dac EGAC00001000756

• GWAS of Childhood acute lymphoblastic leukaemia - Data Access Committee

  Dac EGAC00001000859

• Harbin Medical University Cancer Hospital Data Access Commitee

  Dac EGAC00001000948

• Data Access Committee for Niigata-NIG collaborative work

  Dac EGAC00001000955

• Human LV H3K27ac ChIP-seq Data Access Commitee

  Dac EGAC00001001169

• ASAN Center for Cancer Genome Discovery Data Access Commitee

  Dac EGAC00001001285

• St. Anna Children's Hospital / CCRI Histiocytosis Data Access Committee

  Dac EGAC00001001297

• Singapore National Precision Medicine Programme Data Access Committee

  Dac EGAC00001001322

• ASAN Center for Cancer Genome Discovery Data Access Commitee

  Dac EGAC00001001391

• Data Access Commitee, UCSF Pediatric Bithalamic Glioma Genome Project

  Dac EGAC00001001394

• Peter MacCallum Cancer Centre Research Data Access Committee

  Dac EGAC00001001404

• Cancer Sequencing Data Access Committee

  Dac EGAC00001001428

• Melanoma Spatial Heterogeneity Data Access Committee

  Dac EGAC00001001446

• Peter MacCallum Cancer Centre Research Data Access Committee

  Dac EGAC00001001505

• Tampere University Hospital Leukemia Reserach Data Access Committee

  Dac EGAC00001001551

• Mapping of mtDNA deletions and duplications Data Access Committe

  Dac EGAC00001001558

• Princess Margaret Head and Neck Cancer Data Access Committee

  Dac EGAC00001001647

• MD Anderson Lymphoma &amp; Myeloma Data Access Committee

  Dac EGAC00001001685

• FIMM AML Single-Cell RNA-seq Data Access Committee

  Dac EGAC00001001709