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

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• Multi-region RNA sequencing of tumour regions and tumour-adjacent normal lung tissue

  TRACERx (TRAcking Cancer Evolution through therapy (Rx)) is a prospective cohort study designed to investigate intratumor heterogeneity (ITH) in relation to clinical outcome, and to determine the clonal nature of driver events and evolutionary processes in early stage non-small cell lung cancer (NSCLC).

  Study EGAS00001006517

• Germline genome sequencing samples from the Hereditary Cancer Syndromes (ICCon) Cancer Flagship

  A prospective study of individuals with suspicion of a hereditary cancer syndrome for whom previous clinical targeted genetic testing was either not informative or was not available. To identify pathogenic disease-causing variants explaining participant presentation, germline whole-genome sequencing and a comprehensive cancer virtual gene panel analysis were undertaken.

  Study EGAS00001007045

• 3D-GSC_expression_profiles

  In this study, we used RNA-sequencing gene expression profiling in order to characterize specific phenotypic traits in DIPG-derived glioma stem cell (GSC) models. Twenty-two primary GSC models derived from biopsies collected at diagnosis were cultured in an ECM-mimicking compound before for RNA extraction and subsequent rRNA-depletion and sequencing .

  Study EGAS00001007182

• Tyrol Lifestyle Atlas: Intermittent Fasting Methylation Data

  This study explored methylation, clinical, and other molecular alterations longitudinally over the course of intermittent fasting in healthy women aged 30 to 60. Here, we present methylation data from three matched sample types - buccal, cervical, and blood - longitudinally over the course of six months (baseline, month 2, month 4, and month 6).

  Study EGAS00001007840

• Tyrol Lifestyle Atlas: Smoking Cessation Methylation Data

  This study explored methylation, clinical, and other molecular alterations longitudinally over the course of smoking cessatio in healthy women aged 30 to 60. Here, we present methylation data from three matched sample types - buccal, cervical, and blood - longitudinally over the course of six months (baseline, month 2, month 4, and month 6).

  Study EGAS00001007841

• SOFT study - sequencing premenopausal breast cancer (2017-11-22)

  Our project will examine the role of PIK3CA mutations and their sensitivity to endocrine therapies and its role, with the addition of complete ovarian suppression. We plan to test our hypotheses using tumour samples collected from patients enrolled in the SOFT/IBCSG24-02 clinical study (Suppression of Ovarian Function Trial - (NCT00066690). SOFT is a phase III trial that randomised 3066 premenopausal women to evaluate if adding ovarian suppression to adjuvant endocrine therapy will improve clinical outcomes. This dataset contains all the data available for this study on 2017-11-22.

  Dataset EGAD00001003811

• MPN_Tissue_WGS_NanoSeq

  An exploration of the somatic mutational landscape of a patient with myeloproliferative neoplasm (MPN) and squamous cell carcinoma (SCC). In particular this study aims to identify mutational signatures present in SCC lesion compared to a region of healthy skin, especially searching for the presence of signatures specific to hydroxycarbamide from previous chemotherapy treatment.

  Study EGAS00001007761

• Liquid-based genomic profiling in high-risk localized prostate cancer.

  In this study, we evaluated the feasibility and performance of tissue and liquid-based genomic profiling in patients with high-risk localized prostate cancer. Genomic DNA from 12 FFPE tissue samples and cell-free DNA from 27 plasma samples were analyzed using Illumina TruSight Oncology (TSO) 500 panels.

  Study EGAS50000001712

• snRNA-seq schizophrenia control Prefrontal cortex

  In this study, we performed RNA sequencing of single nuclei from the prefrontal cortex of donors with and without schizophrenia using the 10x Genomics Chromium Single Cell protocol. The project rationale is to determine cell type specific transcriptomic changes between the two groups and linking them to the risk for schizophrenia.

  Study EGAS50000001703

• A rare CTSC mutation in Papillon-Lefèvre Syndrome

  Papillon-Lefèvre Syndrome (PLS) is an autosomal recessive monogenic disease caused by loss-of-function mutations in the CTSC gene. In this study we performed whole genome sequencing on two siblings, with the PLS-typical symptoms. After sequencing the CTSC gene was analyzed to confirm the PLS diagnosis genetically.

  Study EGAS00001005040