14669 results for "PLOS+ONE+Pennsylvania+German+ACS+language+code+pdc+open+access+study"

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• Circulating cell-free DNA methylation profiles as noninvasive multiple sclerosis biomarkers: A proof-of-concept study

  In chronic neurodegenerative diseases such as multiple sclerosis (MS), there is a critical unmet need for cost-effective non-invasive blood biomarkers to concurrently classify disease subtypes, monitor disability severity, and predict long-term progression. In this proof-of-concept study, we performed low-coverage whole-genome bisulfite sequencing (WGBS) on 75 plasma cell-free DNA (cfDNA) samples collected from a well-characterized real-world prospective clinic cohort with longitudinal disability outcome measurements. We assessed the clinical utility of cfDNA methylation profile for differentiating MS patients from non-MS controls, classifying MS subtypes, estimating disability severity, and predicting disease trajectories.

  Study EGAS50000001277

• Feasibility Study to Identify the Optimal Adjuvant Combination Scheme of Ipilimumab and Nivolumab (OpACIN) in resectable stage III melanoma patients

  OpACIN is a feasibility study including 20 patients with palpable stage III melanoma that were 1:1 randomized to receive ipilimumab 3mg/kg and nivolumab 1mg/kg, either 4 courses after surgery (adjuvant arm), or 2 courses prior to surgery and 2 courses post-surgery (neoadjuvant arm). WES and RNA-seq was performed on baseline biopsy material and correlated with outcome of the patients (relapse free survival). TCRseq from baseline tumor samples was used to analyse the top 100 tumor resident clones and analyse their change in PBMC comparing baseline versus week 6 of immunotherapy.

  Study EGAS00001003099

• Molecular profiling of longitudinally observed small colorectal polyps: a cohort study

  Knowledge of the natural history of colorectal adenomas is limited because these lesions are removed upon detection. The few studies in which small adenomas have been left in situ for a limited period of time have shown that most lesions remain stable or even completely vanish. Lesions that have grown in size more often turn out to be advanced adenomas when resected. Specific DNA copy number changes (cancer associated events or CAEs) are associated with progression of adenomas to cancer. The aim of the study was to evaluate whether growth of small colorectal polyps left in situ is associated with specific molecular features.

  Study EGAS00001003284

• Mapping_regulatory_variation_in_sensory_neurons_using_IPS_lines_from_the_HIPSCI_project

  Sensory neurons are nerve cells that are activated by sensory input such as heat, light and convey information to the brain. Although a key cell type in complex organisms, human sensory neurons are challenging to study because they are impossible to obtain from living donors. We have collaborated with the Neucentis Pharmaceutical Research Unit to differentiate sensory neuron like cells from human induced pluripotent stem cells derived as part of the Human Induced Pluripotent Stem Cells Initiative. We will sequence RNA from 100 IPS lines derived from healthy individuals and perform RNA-seq on the differentiated cells to identify noncoding variants that alter gene expression in human sensory neurons.

  Study EGAS00001001149

• CASCADE metastatic melanoma study

  In this study we analyse the evolution of human melanoma from early to late disease in patients by sampling their tumours at multiple sites and times. Whole exome and genome sequencing data from tumour samples reveals only limited gain of point mutations generally, with net mutational loss in some metastases. In contrast, melanoma evolution is dominated by whole genome doubling and large-scale aneuploidy, in which widespread loss of heterozygosity sculpts the burden of point mutations, neoantigens and structural variants even in treatment-naïve and primary cutaneous melanomas in some patients. These results imply that dysregulation of genomic integrity is a key driver of selective clonal advantage during melanoma progression.

  Study EGAS00001004950

• Whole-genome sequencing of normal Singaporean volunteers

  Study EGAS00001003570

• Clonal evolution in myelofibrosis during ruxolitinib therapy

  Study EGAS00001003829

• The Genomic Landscape of Prostate Cancer Brain Metastases

  Study EGAS00001004557

• Study of pediatric hepatocellular carcinoma with BSEP deficiency

  Dac EGAC00001000191

• DAC for study Hypothalamic transcriptome in Prader-Willi syndrome

  Dac EGAC00001000869

• DAC for Genomic landscpae of Chordoid Glioma study

  Dac EGAC00001000906

• DAC for study Non-coding RNAs in Breast Cancer

  Dac EGAC00001001090

• DAC for Peritoneal Mesothelioma sequencing study (LAGA-VPC)

  Dac EGAC00001001093

• DAC for de-methylation of the FOXP3-TSDR study

  Dac EGAC00001001902

• Kutanan and Liu et al 2021 Thai study DAC

  Dac EGAC00001002553

• Targeted sequence of MDS cases treated with azacitidine

  Study EGAS00001007030

• Single-cell multiomic atlas of human retinal organoid development

  Study EGAS00001007065

• RNA-Seq of clonal endocrine therapy resistant cell lines

  Study EGAS00001007123

• Schwachmann_Diamond_Nanoseq

  SDS blood Nanoseq

  Study EGAS00001006828

• BRCA-deficiency/HRD in individuals with HBOC

  Study EGAS00001007258

• Multiomics analyses of ALS prefrontal cortex tissue

  Study EGAS00001007318

• Whole-genome-Sequencing of adult medulloblastoma

  Study EGAS00001000393

• Whole genome sequencing of chondrosarcoma

  Study EGAS00001000505

• Genomic and transcriptome analysis for intrahepatic cholangiocarcinoma

  Study EGAS00001006007

• Bulk ATAC-Seq on sorted cord blood hematopoietic populations

  Study EGAS00001004742