14476 results for "PLOS+ONE+Pennsylvania+German+ACS+language+code+pdc+open+access+study"

in 27.06 milliseconds.

• Genotype data from 'Evidence of the interplay of genetics and culture in Ethiopia'

  Study EGAS00001005171

• Circulating tumor cells for comprehensive and multiregional non-invasive genetic characterization of multiple myeloma

  Study EGAS00001004288

• Longitudinal single-cell transcriptomics reveals distinct patterns of recurrence in acute myeloid leukemia

  Study EGAS00001005820

• A renal cell carcinoma tumorgraft platform to advance precision medicine

  Study EGAS00001005516

• Longitudinal Single Cell Atlas of COVID-19 Identifies an Early, Transient Prognostic Signature

  Study EGAS00001005545

• Minor intron splicing efficiency increases with the development of lethal prostate cancer

  Study EGAS00001005546

• Absolute copy number fitting from shallow whole genome sequencing data

  Study EGAS00001005601

• WGS of iPSC from TOF patients with/without DG and healthy control

  Study EGAS00001006035

• A method for multiplexed full-length single-molecule sequencing of the human mitochondrial genome

  Study EGAS00001006280

• CDK4 phosphorylation predicts high sensitivity of malignant pleural mesotheliomas to CDK4/6 inhibition

  Study EGAS00001006117

• miRNA regulation of monocyte expressed inflammatory genes in patients with inflammatory bowel disease

  Study EGAS00001006157

• Serum Proteome Profiling Identifies Early Markers of Therapeutic Response to Neoadjuvant Chemotherapy of Breast Cancer

  Study EGAS00001006228

• Genomics characterization of BRAF-V600E colorectal cancer patients treated with anti-BRAF/EGFR

  Study EGAS00001006247

• Genetic Determinants of Mannose-binding Lectin Activity Predispose to Thromboembolic Complications in Critical COVID-19

  Study EGAS00001006266

• Comprehensive Whole-Genome Sequence Annotation to Resolve the Genetic Architecture of Cerebral Palsy

  Study EGAS00001006724

• Tertiary lymphoid structure signatures are associated with immune checkpoint inhibitor related acute interstitial nephritis

  Study EGAS00001006781

• The genome-wide mutational consequences of DNA hypomethylation

  Study EGAS00001006845

• Parallel sequencing of extrachromosomal circular DNAs and transcriptomes in single cancer cells

  Study EGAS00001007026

• Gene expression of neutrophils in response to Mtb infection in persons living with HIV

  Study EGAS00001007262

• Healthy human B-lymphopoiesis RNA-Seq reference using FACS sorted bone marrow aspirates

  Study EGAS00001007305

• Identification of IQCH as a calmodulin-associated protein required for sperm motility in humans

  Study EGAS00001007423

• Single-cell dissection of the immune response after a myocardial infarction

  Study EGAS00001007021

• Induction Failure in Childhood and Young Adult T-cell Acute Lymphoblastic Leukemia

  Study EGAS00001006411

• Accessibility Over Transposable Elements Reveals Genetic Determinants of Stemness Properties in Normal and Leukemic Hematopoiesis

  Study EGAS00001007191

• Disturbed trophoblast transition links early fetal to maternal syndrome progression in pre-eclampsia

  Study EGAS00001005681

• APL nanopore sequencing

  Nanopore sequencing for an APL patient

  Study EGAS00001005618

• Characterization of a novel MEF2D-BCL9 fusion positive acute lymphoblastic leukemia cell line WXS

  Study EGAS00001006800

• HCA_Heart_Adult_Wellcome_DNA

  Human Cell Atlas - WGS Adult Heart

  Study EGAS00001006359

• Epigenomic profile of diverse cancer

  Epigenomic profile of diverse cancer.

  Study EGAS00001004352

• Paediatric Tumour Profiling

  Paediatric Tumour Profiling

  Study EGAS00001003437

• Characterization of a novel MEF2D-BCL9 fusion positive acute lymphoblastic leukemia cell line RNA-Seq

  Study EGAS00001006802

• Genome sequencing in monozygotic twins discordant for Mayer-Rokitansky-Küster-Hauser syndrome

  Study EGAS00001006371

• Genetic landscape of pediatric Retinoblastoma

  Study EGAS00001000346

• CCDG CVD: VIRGO - Variation in Recover-Role of Gender on Outcomes of Young Acute Myocardial Infarction (AMI) Patients

  The VIRGO study is a four year research project funded by the NHLBI to study young women and men with heart attacks. A total of 2,000 women who are 18 - 55 years of age and a smaller comparison group of 1,000 similarly aged men will be enrolled in this multi-site observational study from approximately 120 different hospitals across the country. Young women have a much greater risk of dying after an acute myocardial infarction (AMI) than similarly aged men. Their mortality risk is markedly higher than that of young men, and limited data on young minority women suggest that they may have the highest risk of any young subgroup. Findings from the small number of published studies of young women with ischemic heart disease suggest that the biology, epidemiology, care, and outcomes of this group are distinct from those of men. To date, there have been no large studies of this population, even as the death toll is comparable to that from breast cancer in this country. This study will help researchers identify key factors that influence recovery from a heart attack and potentially improve the care and outcomes of young women and men with AMI. Specific Aims: To investigate the excess risk in young women with AMI and to identify key demographic, clinical, metabolic, psychosocial, health care delivery, and biological determinants of prognosis, we propose a national, prospective, observational study of 2,000 women who are 55 years or younger with AMI and a smaller comparison group of 1,000 men. Our prior work and preliminary studies indicate that the sex differences are most prominent in this age group and suggest that by 1 year after discharge, there are substantial sex differences in outcomes. We will also develop risk stratification tools that will help clinicians to identify young women with the highest and lowest risk. Specific Aim 1: Determine sex differences in outcomes following AMI. Specific Aim 2: Determine sex differences in the prevalence and prognostic importance of demographic, clinical, and psychosocial risk factors. Specific Aim 3:Determine sex differences in quality of care. Specific Aim 4: Determine sex differences in the prevalence and prognostic importance of selected biochemical biomarkers following AMI. These samples have been whole genome sequenced as part of the NHGRI's Center for Common Disease Genetics at the Broad Institute.

  Study phs001259

• Study of the Human Skin Metagenome Associated with Acne

  Studies have emphasized the importance of disease-associated microorganisms in perturbed communities, however, the protective roles of commensals are largely under recognized and poorly understood. Using acne as a model disease, we investigated the determinants of the overall virulence property of the skin microbiota when disease- and health-associated organisms coexist in the community. By ultra-deep metagenomic shotgun sequencing, we revealed higher relative abundances of propionibacteria and Propionibacterium acnes phage in healthy skin. In acne patients, the microbiome composition at the species level and at P. acnes strain level was more diverse than in healthy individuals, with enriched virulence-associated factors and reduced abundance of metabolic synthesis genes. Based on the abundance profiles of the metagenomic elements, we constructed a quantitative prediction model, which classified the clinical states of the host skin with high accuracy in both our study cohort (85%) and an independent sample set (86%). Our results suggest that the balance between metagenomic elements, not the mere presence of disease-associated strains, shapes the overall virulence property of the skin microbiota. This study provides new insights into the microbial mechanism of acne pathogenesis and suggests probiotic and phage therapies as potential acne treatments to modulate the skin microbiota and to maintain skin health.

  Study phs001655

• Genetic landscape of pediatric ETV6-RUNX1 acute lymphoblastic leukemia

  Abstract in preparation

  Study EGAS00001001315

• Integration of intra-sample contextual error modeling for improved detection of somatic mutations

  Study EGAS00001003806

• Genetic landscape of pediatric ETV6-RUNX1 acute lymphoblastic leukemia

  Abstract in preparation

  Study EGAS00001001314

• Genetic landscape of pediatric high hyperdiploid acute lymphoblastic leukemia

  Abstract in preparation

  Study EGAS00001001316

• Sequencing component for the whole genome methylation analysis in PBMCs and cell subset pilot study DAC

  Dac EGAC00001000096

• DAC for study: "Circulating tumour DNA abundance and potential utility in de novo metastatic prostate cancer"

  Dac EGAC00001001099

• Quad samples for study EGAS00001001023

  Dataset EGAD00001001126

• HNF1A haploinsufficiency causes decreased insulin expression, dysregulation of pancreatic progenitor signature genes and affects chromatin accessibility

  Study EGAS00001006309

• 5' Single cell RNA sequencing of pre-treatment tissues from lung cancer patients receiving immunotherapy

  Study EGAS00001006188

• The landscape of somatic mutations in epigenetic regulators across 1000 pediatric cancer genomes

  Study EGAS00001000449

• Identification of mutations and structural rearrangements in plasma DNA form metastatic prostate cancer patients

  Study EGAS00001000453

• Expression profiles and genetic makeup of metastases of a cancer of unknown primary.

  Study EGAS00001004059

• Oncolytic virotherapy mediated anti-tumor response in primary cutaneous B-cell lymphoma: a single-cell perspective

  Study EGAS00001004904

• Next Generation Sequencing Characterization of Hematopoietic Stem and Progenitors Cells in Human Systemic Lupus Eryhtematosus

  Study EGAS00001003679

• Fresh vs. frozen cell preparations of colorectal cancer single-cell RNA sequencing

  Study EGAS00001003769

• Single cell sequencing: Capturing the origin and dynamics of chromosomal copy-number heterogeneity

  Study EGAS00001003812

• Concurrent germline and somatic pathogenic BAP1 variants in a patient with metastatic bladder cancer

  Study EGAS00001004055

• STM4 - Mouliere et al, 2018. Enhanced detection of circulating tumor DNA by fragment size analysis

  Study EGAS00001004418

• Human gastrointestinal epithelia of the esophagus, stomach and duodenum resolved at single-cell resolution

  Study EGAS00001004695

• Characterization of stromal tumor-infiltrating lymphocytes and genomic alterations in metastatic lobular breast cancer

  Study EGAS00001004641

• BRCA2, ATM, and CDK12 defects differentially shape prostate tumor driver genomics and clinical aggression

  Study EGAS00001004800

• IG-MYC rearrangement defines a high-risk subgroup of B-cell precursor acute lymphoblastic leukaemia

  Study EGAS00001005111

• Genomic Analysis of Focal Nodular Hyperplasia with Associated Hepatocellular Carcinoma Unveils its Malignant Potential

  Study EGAS00001005313

• Immune infiltrate and tumor microenvironment transcriptional programs stratify pediatric osteosarcoma into prognostic groups at diagnosis

  Study EGAS00001005326

• Evaluating CRISPR-based Prime Editing for cancer modeling and CFTR repair in organoids

  Study EGAS00001005358

• Orthotopic murine Group 3 medulloblastoma in C57Bl/6 mice treated with saline, cyclophosphamide or gemcitabine

  Study EGAS00001005846

• Orthotopic murine Group 3 medulloblastoma in C57Bl/6 mice treated with sham or craniospinal irradiation

  Study EGAS00001005847

• Integrated single-cell profiling dissects cell-state-specific enhancer landscapes of human tumor infiltrating T cells.

  Study EGAS00001006141

• Genomic profiling of metastatic basal cell carcinoma reveals candidate drivers of disease and therapeutic targets

  Study EGAS00001006148

• Neutrophil extracellular traps have auto-catabolic activity and produce mononucleosome-associated circulating DNA

  Study EGAS00001006759

• NPY methylated ctDNA is a promising biomarker for treatment response monitoring in metastatic colorectal cancer

  Study EGAS00001006820

• JAK/STAT signaling promotes the emergence of regenerative cell states in ulcerative colitis

  Study EGAS00001007098

• Transcriptome analyses of a large cohort of adult B cell acute lymphoblastic leukemia samples

  Study EGAS00001007217

• Mechanism of action and resistance to Trastuzumab Deruxtecan in patients with metastatic breast cancer

  Study EGAS00001007372

• CUPiD, a cfDNA methylation-based tissue-of-origin classifier for Cancers of Unknown Primary

  Study EGAS00001007445

• RAGE engagement by SARS-CoV-2 enables monocyte infection and underlies COVID-19 severity

  Study EGAS00001007529

• Low-coverage whole-genome sequencing of cancer and healthy plasma circulating DNA

  Study EGAS00001007593

• scRNA-seq analysis Identifies Hepatic IL-13-Producing ILC3-Like Cells Potentially Linked to Liver Fibrosis

  Study EGAS00001007207

• The WID-EC test for the detection and risk prediction of endometrial cancer

  Study EGAS00001005033

• The DNA methylome of cervical cells and risk of ovarian cancer

  Study EGAS00001005045

• Genomic profiling of subcutaneous patient derived xenograft models of solid childhood cancer

  Study EGAS00001006710

• DEREGULATION OF PRE-mRNA SPLICING IN MISMATCH REPAIR DEFICIENT COLORECTAL CANCER

  Study EGAS00001004863

• Medulloblastoma WES

  WES for tumor and normal samples

  Study EGAS50000000261

• Altered neutrophil and granulopoiesis biology underlie a poor outcome sepsis endotype

  Study EGAS00001006283

• Epigenetic reprogramming shapes monocytes and heterologous T cell derived cytokine responses in BCG vaccination

  Study EGAS00001007498

• Single Cell Transcriptomics of peripheral immune cells pre- and post-Immune Checkpoint Blockade

  Study EGAS00001005507

• Characterization of UV DNA damage in B-cell precursor acute lymphoblastic leukemia

  Study EGAS00001008128

• Multi-modal analysis of pediatric pilocytic astrocytomas reveals tumor location-associated cellular and transcriptional heterogeneity

  Study EGAS00001008187

• An Integrated Approach to Patient Stratification and Therapy Selection in Acute Myeloid Leukemia

  Study EGAS00001004655

• Single cell RNA sequencing of relapsed/refractory multiple myeloma

  Study EGAS00001004805

• Whole Genome Methylation in CLL

  Study EGAS00001000272

• Genome-wide sequencing of (cell-free) DNA from Nipple aspirate fluid of Breast cancer patients

  Study EGAS00001007214

• Characterization of a novel MEF2D-BCL9 fusion positive acute lymphoblastic leukemia cell line RNA-Seq derived

  Study EGAS00001006803

• FFPE_whole_genome_pilot

  To assess feasibility of whole genome sequencing

  Study EGAS00001001967

• Deep_sequencing_of_melanoma_for_driver_mutations

  Deep sequencing of melanoma for driver mutations

  Study EGAS00001000857

• HCA_Heart_Adult_Wellcome_spatial

  Spatial transcriptome analysis of the human heart

  Study EGAS00001007848

• Cell-free DNA sequencing data of healthy control, atrophic gastritis, and gastric cancer patients’ blood

  Study EGAS00001007308

• RFX6-mediated dysregulation defines human β cell dysfunction in early type 2 diabetes

  Study EGAS00001006273

• Mutations in SKI in Shprintzen-Goldberg syndrome lead to attenuated TGFB responses through SKI stabilization

  Study EGAS00001004908

• Plasma DNA end analysis (mouse)

  Plasma DNA end analysis (mouse)

  Study EGAS00001006700

• Genetic landscape of non-Down syndrome acute megkaryoblastic leukemia

  Study EGAS00001000379

• GEenetic landscape of hypodiploid acute lymphoblastic leukemia

  Study EGAS00001000380

• CB

  CB: Aligned sequences used in the error modeling study

  Dataset EGAD00001005261

• Angiosarcoma targeted pulldown cancer gene panel

  Extension of angiosarcoma whole genome sequencing study

  Dataset EGAD00001001064

• 20200819_EGA_Qld_Melanoma.biomarkers

  A study looking at Germline and Somatic biomarkers using WES data only

  Dataset EGAD00001006374