14461 results for ""Pennsylvania+German"+ACS+study+'Socius'+open+access"

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• A Comprehensive Genetic Study of Classical Hodgkin Lymphoma Using Circulating Tumour DNA

  This study on classical Hodgkin lymphoma (cHL) used advanced methods to analyse circulating tumour DNA (ctDNA) in 297 cases, offering insights into its genetic landscape and linking it to disease pathophysiology and clinical progression. Key findings include the identification of whole genome duplication as a predictor of poor chemotherapy response. Additionally, a highly recurrent somatic expression quantitative trait locus of the BCL6 gene was discovered, implicating regulatory mutations in cHL pathophysiology and highlighting BCL6 as both a vulnerability and therapeutic target. Consensus clustering identified two cHL subtypes distinguished by the underlying mechanisms of genetic instability, rather than by specific genetic mutations or EBV infection. The study also linked the number and clonality of neoantigens with tumour microenvironment and response to checkpoint blockade. Finally, our results suggested ctDNA analysis as a tool to distinguish ambiguous PET/CT-positive lesions persisting after treatment, aiming to reduce unnecessary medical interventions.

  Study EGAS50000000873

• Multi-Omic Microbiome Study-Pregnancy Initiative (MOMS-PI)

  The Vaginal Microbiome Consortium team at Virginia Commonwealth University has conducted the Multi-Omic Microbiome Study: Pregnancy Initiative (MOMS-PI) in collaboration with the Global Alliance to Prevent Prematurity and Stillbirth (GAPPS) to better understand how microbiome and host profiles change throughout pregnancy and influence the establishment of the nascent microbiome in neonates. The team particularly focused on elucidation of the role of the microbiome and its components in the etiology of preterm birth, which occurs in over 10% of pregnancies and which is the leading cause of death in neonates. Samples from 1594 women and their neonates were collected throughout pregnancy, at delivery and postpartum. The group has generated a comprehensive dataset of multiple omics technologies. This longitudinal, large-scale effort was designed to provide a large-scale resource for the scientific community. The study also permits characterization of temporal dynamics of the microbiome in pregnancy and factors associated with preterm birth.

  Study phs001523

• DIME study: Safety, dose-response and efficacy of treatment with Anaerobutyricum soehgenii on glucose metabolism in human subjects with metabolic syndrome

  The intestinal microbiota has been implicated in insulin resistance, although evidence regarding causality in humans is scarce. We herefore performed a phase I/II dose-finding and safety study on the effect of oral intake of the anaerobic butyrogenic Anaerobutyricum soehgenii on glucose metabolism in subjects with metabolic syndrome. We found that treatment with A. soehgenii was safe and observed an overall significant and dose-dependent increase in insulin sensitivity after 4 weeks in all treated subjects. This was accompanied by an altered microbiota composition and a change in bile acid metabolism. Finally, we show that metabolic response upon administration of A. soehgenii (defined as improved insulin sensitivity 4 weeks after A. soehgenii intake) is dependent on microbiota composition at baseline. These data in humans are promising and additional studies are needed to study long-term effects as well as modes of delivery.

  Study EGAS00001003498

• Northern Ireland COhort for the Longitudinal study of Ageing

  The Northern Ireland COhort for the Longitudinal study of Ageing (NICOLA) is a representative sample of ~8,500 people from across Northern Ireland. The study, which was set up in 2012, aims to understand what it is like to grow older in Northern Ireland. • NICOLA has a strong focus on molecular biomarkers so there is complementary genetic, epigenetic and transcriptomic data available for a subset of individuals. • We inherit much of our DNA from our parents while a small amount of this material changes as we get older. In NICOLA we have 551,839 directly genotyped and 18,148,478 imputed Single Nucleotide Polymorphisms (SNPs) currently available for 2969 participants. • Summary statistics for the association of these gene polymorphisms with ~30 phenotypes were generated. • Epigenetics provides a link between our inherited DNA and environmental influences from a person’s diet, medication and lifestyle. NICOLA has the epigenetic quality controlled profiles of 1984 individuals arising from variations in DNA methylation at 862,927 genetic sites.

  Study EGAS00001007915

• TGCT Germline Exome Sequencing Study

  Dac EGAC00001000944

• DAC for HTS MRD study

  Dac EGAC00001000359

• DAC for the study EGAS00001003572

  Dac EGAC00001001174

• Metastatic Gliosarcoma Case Study DAC

  Dac EGAC00001001434

• AIP Barcelona Study

  Dac EGAC00001001940

• JAK/STAT colitis study Commitee

  Dac EGAC00001003159