14676 results for "PLOS+ONE+Pennsylvania+German+ACS+language+code+pdc+open+access+study"

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• Detection of cancers three years prior to diagnosis using plasma cell-free DNA

  A major goal of early cancer detection is to identify subclinical disease when the tumor burden is low, so that treatments are more effective. But how early can cancers be detected prior to clinical signs or symptoms? This question can be answered only through the evaluation of participants whose clinical course has not been altered by the study itself. We here describe such an evaluation, performed on prospectively collected plasma samples from the Atherosclerosis Risk in Communities (ARIC) study, including 26 participants diagnosed with cancer and 26 matched controls. At the index time point, eight of these 52 participants scored positively with a multicancer early detection (MCED) blood test. All eight of these participants were diagnosed with cancer within 4 months after blood collection. In six of these 8 participants, we were able to assess an earlier plasma sample collected 3.1 to 3.5 years prior to clinical diagnosis. In four of these six participants, the same mutations detected by the MCED test could be identified, but at 8.6 to 79-fold lower levels. These results demonstrate that it is possible to detect circulating tumor DNA (ctDNA) more than three years prior to clinical diagnosis, and provide benchmark sensitivities required for the success of ctDNA-based tests for this purpose.

  Study EGAS00001008068

• RNA-Seq of vocal fold fibroblasts in Reinke’s edema and control subjects

  The voice disorder Reinke’s edema (RE) is a smoking- and voice-abuse associated benign lesion of the vocal folds, defined by an edema of the Reinke space, accompanied with pathological microvasculature changes and immune cell infiltration. Vocal fold fibroblasts (VFF) are the main cell type of the lamina propria and play a key role in the disease progression. Current therapy is restricted to symptomatic treatment. Hence, there is an urgent need for a better understanding of the molecular causes of the disease. In the present study, we investigated differential expression profiles of RE and control VFF by means of RNA sequencing. In addition, fast gene set enrichment analysis (FGSEA) was performed in order to obtain involved biological processes, mRNA and protein levels of targets of interest were further evaluated. We identified 74 differentially regulated genes in total, 19 of which were upregulated and 55 downregulated. Differential expression analysis and FGSEA revealed upregulated genes and pathways involved in extracellular matrix (ECM) remodeling, inflammation and fibrosis. Downregulated genes and pathways were involved in ECM degradation, cell cycle control and proliferation. The current study addressed for the first time a direct comparison of VFF from RE to control and evaluated immediate functional consequences.

  Study EGAS00001005130

• A Genome-Wide Association Study of Fuchs' Endothelial Corneal Dystrophy (FECD)

  Fuchs' Endothelial Corneal Dystrophy (FECD) is a common disease that results in loss of vision associated with progressive corneal edema and loss of corneal transparency. In the initial stages of the disease, excrescences on Descemet's membrane with the appearance of an abnormal posterior collagenous layer, result in the clinical and pathologic appearance of guttae. Corneal edema ensues as endothelial function is compromised that may result in stromal edema, epithelial edema, and painful bullous keratopathy. Penetrating or endothelial keratoplasty is the only definitive treatment, with palliative care the only option prior to surgery. The pathophysiology underlying FECD, particularly in the common cases that affect older individuals, remains unknown, with a genetic predisposition being reported as the single best predictor of disease. Three independent groups funded by the National Eye Institute (NEI), with well-established programs in the genetics of FECD, conducted a genome-wide association study of FECD. The collaboration comprised investigators from Case Western University (CWRU), Duke University (DUEC), and Johns Hopkins University (JHU). CWRU and DUEC contributed samples that were genotyped at CIDR for the GWAS. Johns Hopkins University (JHU) provided samples for the replication phase of the study, where their data are not listed in dbGaP. Cohorts of FECD cases and controls were assembled. Synchronization of clinical and coded data was performed to unify the information across centers. The family history, clinical, demographic information, and genome-wide genotype data for samples from CWRU and DUEC were deposited in dbGaP.

  Study phs000421

• Genomic profiling for metastatic uveal melanoma from a phase I study of the protein kinase C inhibitor AEB071

  Up to 50% of patients with uveal melanoma (UM) develop metastatic disease, for which there is no effective systemic treatment. This study aimed to evaluate the safety and efficacy of the orally available protein kinase C inhibitor, AEB071, in patients with metastatic UM, and to perform genomic profiling of metastatic tumor samples, with the aim to propose combination therapies. Metastatic UM patients (n=153) were treated with AEB071 in a Phase I, single-arm study. Patients received total daily doses of AEB071 ranging from 450 to 1400 mg. First-cycle dose-limiting toxicities (DLTs) were observed in 13 patients (13%). These were most commonly gastrointestinal system toxicities and were dose related, occurring at doses > 700 mg/day. Preliminary clinical activity was observed, with 3% of patients achieving a partial response and 50% with stable disease (median duration 15 weeks). High-depth, targeted next-generation DNA sequencing (NGS) was performed on 89 metastatic tumor biopsy samples. Mutations previously identified in UM were observed, including mutations in GNAQ, GNA11, BAP1, SF3B1, PLCB4, and amplification of chromosome arm 8q. GNAQ/GNA11 mutations were observed at a similar frequency (93%) as previously reported, confirming a therapeutic window for inhibition of the downstream effector PKC in metastatic UM. In conclusion, the protein kinase C inhibitor AEB071 was well tolerated and modest clinical activity was observed in metastatic UM. The genomic findings were consistent with previous reports in primary UM. Together, our data allow envisaging combination therapies of PKC inhibitors with other compounds in metastatic UM.

  Study phs001953

• Angiosarcoma follow up study

  A bespoke targeted pulldown experiment will be performed on patients with Angiosarcoma. the resulting products will be sequenced to determine the prevalence of previously found mutations in these patients.

  Dataset EGAD00001000620

• HCC.GNE RNA-Seq

  RNA-Sequencing data (raw read sequences) for 23 samples, from 12 patients, for the study "Diverse modes of genomic alterations in Hepatocellular Carcinoma"

  Dataset EGAD00001000886

• WTCCC2 bacteraemia susceptibility replication samples

  A WTCCC2 project - replication study for bacteraemia susceptibility in 2518 individuals from Kenya, genotyped on the Illumina Immunochip chip.

  Dataset EGAD00010001509

• DNA-Methylation data for atypical teratoid/rhabdoid tumoroids study

  We demonstrate that ATRT tumoroids retain subgroup-specific epigenetic and gene expression profiles

  Dataset EGAD00010002400

• Dataset for central nervous system glioma samples

  This dataset contains VCF files for 124 central nervous system glioma samples for the study "Cerebrospinal fluid cfDNA sequencing for classification of central nervous system glioma"

  Dataset EGAD50000000085

• The evolution of ovarian high grade serous carcinoma from STIC lesions

  We performed Ampliseq on 11 samples on a targeted panel of 17 genes.

  Study EGAS50000000361

• Highly similar genomic landscapes in monoclonal B-cell lymphocytosis and ultra-stable chronic lymphocytic leukemia with low frequency of driver mutations

  whole genome sequencing of MBL and CLL

  Study EGAS50000000434

• RISE-UP Cohort

  The RISE-UP study contains raw metagenomic sequencing data of Crohn's disease patients. Paired-end sequencing was performed using the Illumina HiSeq 2000 platform.

  Dataset EGAD50000001436

• DAC for "Identification and characterization of tertiary lymphoid structures in brain metastases"

  This is the DAC for the study "Identification and characterization of tertiary lymphoid structures in brain metastases" of Prof. Dr. Guido Reifenberger (Guido.Reifenberger@med.uni-duesseldorf.de)

  Dac EGAC50000000369

• Whole exome sequencing of prDLBCL

  To investigate the mutational landscape of prDLBCL, 34 cases were selected for whole exome sequencing.

  Study EGAS50000000403

• HeLa S3 (CCL-2.2) HiC Sequencing

  HiC chromatin conformation sequencing was performed for the purpose of chromosome fusion and structural rearrangement identification.

  Study phs000665

• DAC for "Drug Development against Tumor Microtube Networks in Glioblastoma"

  This is the DAC for the study "Drug Development against Tumor Microtube Networks in Glioblastoma" of Dirk C. Hoffmann, Dirk.Hoffmann@dkfz.de and Frank Winkler, Frank.Winkler@med.uni-heidelberg.de

  Dac EGAC50000000326

• NICOLA Epigenetic Data Wave 1 - Beta values

  Beta values generated from Illumina EPIC methylation array data for a subset of NICOLA Wave 1 samples.

  Dataset EGAD50000001965

• Whole genome sequencing analysis of hepatoblastoma

  Whole genome sequencing analysis of pediatiric liver tumor, hepatoblastoma, and their genomic and epigenomic features.

  Study JGAS000156

• Whole exome sequencing of surgically resected lung adenocarcinomas and gastric adenocarcinomas.

  We performed whole exome sequencing of surgically resected lung adenocarcinomas and gastric adenocarcinomas.

  Study JGAS000216

• Comprehansive analysis of somatic mutations and genetic variations with whole genome sequencing

  Indetification of stractural variations by using of long read whole genome sequencing data

  Study JGAS000516

• DIS3 licenses B cells for physiological plasma cell differentiation in humans

  DIS3 licenses B cells for physiological plasma cell differentiation in humans

  Study EGAS50000000853

• Multiple Myeloma treated with BCL2 inhibitor based treatment

  Whole Genome Sequencing from patients with multiple myeloma treated with BCL2 inhibitor based treatment.

  Study EGAS50000001479

• Genome and transcriptome sequence data from a neuroblastoma tumor patient

  Genome and transcriptome sequence data from a neuroblastoma patient, generated as part of the BC Cancer Agency's Pediatric Personalized Onco-Genomics study

  Dataset EGAD00001015302

• Reference epigenome Islet-derived-MSC04 h3k9me3 ChIP-Seq data generated from KEP study

  Islet-derived-MSC04 h3k9me3 ChIP-Seq paired end data

  Dataset EGAD00001007434

• Reference epigenome Islet-derived-MSC02 input ChIP-Seq data generated from KEP study

  Islet-derived-MSC02 input ChIP-Seq paired end data

  Dataset EGAD00001007415