14394 results for ""Pennsylvania+German"+ACS+study+'Socius'+open+access"

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• Meisal temporal lobe epilepsy sequencing study

  Our understanding of mesial temporal lobe epilepsy (MTLE) is one of the most common forms of drug-resistant epilepsy in humans. Using RNA- and small RNA-sequencing in parallel, we explored differentially expressed genes in the hippocampus and cortex of MTLE patients who had undergone surgical resection and non-epileptic controls. We found significant enrichment for astrocytic and microglial genes amongst up-regulated genes and down-regulation of neuron-specific genes in the hippocampus of MTLE patients. The transcriptome profile of the small RNAs reflected disease state more robustly than mRNAs, even across brain regions which show very little pathology.

  Study EGAS00001003922

• Whole-genome sequencing of rare disease patients in a national healthcare system

  Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and mediating genes for more than half such disorders remain to be discovered. We implemented whole-genome sequencing (WGS) in a national healthcare system to streamline diagnosis and to discover unknown aetiological variants, in the coding and non-coding regions of the genome. In a pilot study for the 100,000 Genomes Project, we generated WGS data for 13,037 participants, of whom 9,802 had a rare disease, and provided a genetic diagnosis to 1,138 of the 7,065 patients with detailed phenotypic data. We identified 95 Mendelian associations between genes and rare diseases, of which 11 have been discovered since 2015 and at least 79 are confirmed aetiological. Using WGS of UK Biobank1, we showed that rare alleles can explain the presence of some individuals in the tails of a quantitative red blood cell (RBC) trait. Finally, we reported 4 novel non-coding variants which cause disease through the disruption of transcription of ARPC1B, GATA1, LRBA and MPL. Our study demonstrates a synergy by using WGS for diagnosis and aetiological discovery in routine healthcare.

  Dataset EGAD00001006065

• MutWP5: CRUK Mutographs of Cancer: Cancer Mastectomy (Exome)(Novaseq)

  Sequencing of LCM-derived microbiopsies from 40 women who underwent mastecomies due to breast cancer. LCM and sequencing will be conducted on both normal, unaffected breast, and, where possible, tumour tissue. Goal to assess the mutational burden, spectrum, and clonal dynamics within the tissue, and compare findings between the normal and associated cancer tissues. Whole-genome sequencing will be conducted on samples identified as promising from the initial targeted data. Results from this poriton of the study will be compared to women who had cosmetic breast reduction surgeries and those who are BRCA carriers. . This dataset contains all the data available for this study on 2023-03-08.

  Dataset EGAD00001010117

• TRACERx100 metastatic samples

  Whole exome sequencing of 10 metastatic biopsies from four TRACERx100 patients (see EGA dataset EGAS00001002247), collected either after relapse or death. The data from these samples are initially published with Abbosh, C. et al. Phylogenetic ctDNA analysis depicts early stage lung cancer evolution. Nature, http://dx.doi.org/10.1038/nature22364 (2017). Abstract: Earlier detection of relapse following primary surgery for non-small cell lung cancer and the characterization of emerging subclones seeding metastatic sites might offer new therapeutic approaches to limit tumor recurrence. The potential to non-invasively track tumor evolutionary dynamics in ctDNA of early-stage lung cancer is not established. Here we conduct a patient-specific approach to ctDNA profiling in the first 100 lung TRACERx (TRAcking Cancer Evolution through therapy (Rx)) study participants, including one patient co-recruited to the PEACE (Posthumous Evaluation of Advanced Cancer Environment) post-mortem study. We identify independent predictors of ctDNA release in early-stage non-small cell lung cancer and perform tumor volume limit of detection analyses. Through blinded profiling of post-operative plasma, we observe evidence of adjuvant chemotherapy resistance and identify patients destined to experience recurrence of their lung cancer. Finally, we show that phylogenetic ctDNA profiling tracks the subclonal nature of lung cancer relapse and metastases, providing a new approach for ctDNA driven therapeutic studies.

  Dataset EGAD00001003301

• Control sets genotyped with Dynal RELI SSO and Roche Molecular Systems platfroms

  HLA typing on subjects in WTCCC and T1DGC GWA studies using Dynal RELI SSO assays (Invitrogen, Paisley, UK), sequence-specific oligonucleotide probe-based method and line strips from Roche Molecular Systems (Alameda, CA, USA)

  Study EGAS00000000032

• Familial Melanoma Sequencing

  In this experiment we have sequenced the exome of 15 individuals from eight families who have familial melanoma. By sequencing the exome we hope to be able to identify new genes that are associated with this disease.

  Study EGAS00001000017

• Primary Lung Cancer whole genome study

  Genomic libraries (500 bps) will be generated from total genomic DNA derived from lung cancer patients and subjected to short paired end sequencing on the llumina platform. Paired reads will be mapped to build 37 of the human reference genome to facilitate the generation of genome wide copy number information, and the identification of novel rearranged cancer genes and gene fusions.

  Dataset EGAD00001000388

• DNA sequening

  The dataset consist of DNA and RNA sequencing results and metadata of the samples. All sample numbers starting with 6716 are tumor samples which has been sequenced using WES (see BAM files). It concerns biopsies of metastatic lesions from patients with BRAFV600 mutated melanoma, obtained before, during and after the study treatment (see samples metadata) and in some cases blood for germline mutation analysis. Sequencing is performed using the Illumina Novaseq 6000 system.

  Dataset EGAD50000000382

• Immunogene panel sequencing dataset

  This dataset contains 241 samples sequenced with immunogene panel (2533 genes). The samples are sorted CD4+ or CD8+ T cells, skin, or fibroblast samples from patients with various hematological disorders (n=90) and healthy blood donors (n=21). The detailed description of sample processing, sequencing, and read alignment can be found in the publication (Somatic mutations associate with clonal expansion of CD8+ T cells, PMID: [will be updated])

  Dataset EGAD50000000352

• Lifelines NEXT

  The Lifelines-NEXT is a cohort of newborns followed up from birth up to the age of 1 year and later. The cohort includes approximately 1,500 newborns and their mothers from the 3 provinces of the Northern Netherlands.

  Study EGAS50000000133

• Paired primary and recurrent patient GBM sample EZH2 binding profiles

  To ascertain the change in PRC2 occupancy at different promoter sets between primary and recurrent tumour, we performed EZH2 ChIPseq in longitudinal GBM samples from one Up and one Down responder from our cohort.

  Study EGAS50000000100

• Integrative Somatic and Germline Molecular Characterization of Genitourinary Cancers

  We have performed integrative bulk (whole exome sequencing of tumor and normal paired and whole transcriptome sequencing) and single cell analysis of primary and metastatic non-prostate genitourinary cancer specimens, such as renal and bladder tumors.

  Study phs002065

• Major Depression: Stage 1 Genomewide Association in Population-Based Samples

  Identification of genomic regions that confer susceptibility to or protection from major depressive disorder (MDD) via genomewide association. Consent groups and participant set Psychiatric and Related Somatic Conditions (PRSC): 3741 (1821 cases, 1822 controls, 98 others)

  Study phs000020

• Transcriptional profiling and clonality analysis of peripheral blood B cells and small intestinal plasma cells in celiac disease

  Single-cell RNA-seq and BCR sequencing and/or inference of sorted IgA+ peripheral blood B-lineage cells and small intestinal plasma cells of untreated celiac disease patients.

  Study EGAS50000000229

• RNAseq from a study of MYC, BCL2 and BCL6 rearrangements in non-Hodgkin lymphoma.

  Paired-end ribodepletion RNAseq performed on 257 samples of Burkitt lymphoma, diffuse large B cell lymphoma, follicular lymphoma, and high-grade B cell lymphoma with MYC and BCL2 or BCL6 rearrangements. RNA was derived from either fresh frozen or formalin fixed/paraffin embedded (FFPE) tissues. Sequencing was performed on Illumina HiSeqX or NovaSeqX instruments.

  Dataset EGAD50000000496

• Disease recurrence after pathologic response

  In this study we aim to gain insight into the mechanisms of immune evasion after initial pathologic response to neoadjuvant immune checkpoint inhibition in macroscopic stage III melanoma by pooling data of the neoadjuvant OpACIN, OpACIN-neo and PRADO trials. Therefore we analyzed in-depth paired baseline(n=10) and recurrent tumor samples of the lymph nodes(n=10) and brain metastasis (n=2) through Whole Exome Sequencing (WES) analyses.

  Dataset EGAD50000000700

• Comparison of the single-cell and single-nucleus hepatic myeloid landscape within decompensated cirrhosis patients

  In-patient comparison of single-cell RNA-sequencing (scRNA-seq) and single-nucleus (snRNA-seq) technologies and accompanying tissue processing protocols on transjugular liver biopsy from decompensated cirrhosis patients (n = 3).

  Study EGAS50000000073

• ICARUS-LUNG01-ExomeSeq

  Whole exome sequencing (WES) on frozen tumor biopsies at BL to identify genomic alterations associated with response/resistance. Non- synonymous point mutations, indels, homozygous deletions, loss of heterozygosity (LOH) and low, medium, and high-level amplifications were assessed.

  Study EGAS50000000733

• Spatially Resolved Tumor Ecosystems and Cell States in Gastric Adenocarcinoma Progression and Evolution

  This whole-section GeoMx Digital Spatial Profiler (DSP) dataset was a part of the discovery cohort in the study. The dataset contains raw FASTQ files from Regions of Interest (ROIs) across complete tumor tissue sections, enabling detection of 18,000 protein-coding genes. GeoMx DSP data from 1063 ROIs (after QC) from 15 GCs were included in the datasets.

  Dataset EGAD50000000500

• Single-cell RNA-sequencing of CSF cells and PBMCs from individuals with neurological disorders

  We undertook single-cell RNA sequencing to establish gene expression and lymphocyte receptor sequences of CSF and peripheral blood leukocytes derived from patients with a variety of inflammatory, infectious and non-inflammatory neurological disorders. The aim of the study was the investigation of functional changes of the cells involved in neuroinflammatory responses.

  Dataset EGAD50000001173

• Comprehensive genomic characterization of early stage bladder cancer - whole exome sequencing data

  For this project about non-muscle invasive bladder cancer (NMIBC), we analysed WES data from 438 patients. The dataset is composed of 876 BAM files: 438 tumor samples and 438 paired blood samples.

  Study EGAS50000000511

• CSF and PBMC scRNAseq RRMS patients at diagnostic n=5

  To get insights about immune cells infiltrating cells the CSF of RRMS patients (n=5), we proceed to 10X scRNAseq of paired CSF and blood circulating cells (about 20000 cells each) sampled at diagnostic.

  Study EGAS50000000308

• The dataset for Genome-wide analyses of cell-free DNA for therapeutic monitoring of patients with pancreatic cancer

  The dataset for “Genome-wide analyses of cell-free DNA for therapeutic monitoring of patients with pancreatic cancer” includes 496 cram files from whole genome next-generation sequencing on the Illumina NovaSeq 6000. The samples analyzed include tumor tissue, matched buffy coat and longitudinal plasma samples from individuals with pancreatic cancer.

  Dataset EGAD50000001353

• Brazilian Genomes

  We generated 2,723 high-coverage whole-genome sequences of Brazilian population from the country’s five geographical regions. This diverse group encompasses individuals from urban and rural settings (including riverine communities) and represents various ethnic backgrounds, including Afro-Brazilians.

  Study EGAS50000000730

• MEMORI WES bams

  This project stores bam files from deep whole exome sequencing from oesophageal adenocarcinoma at different timepoints during neoadjuvant treatment (prior, during, post treatment), which were used to analyse evolutionary and phenotype dynamics in oesophageal adenocarcinoma during neoadjuvant treatment.

  Study EGAS50000000240

• Shared and distinct features of immune checkpoint therapy-induced myocarditis and myositis

  Immune checkpoint therapies (ICTs) can induce life-threatening immune-related adverse events including myocarditis and myositis, which are rare and often concurrent. The molecular pathways and immune subsets underlying these toxicities remain poorly understood.

  Study EGAS00001007511

• The dataset for Genomic landscapes of endometrioid and mucinous ovarian cancers and morphologically similar tumor types

  The dataset for “Genomic landscapes of endometrioid and mucinous ovarian cancers and morphologically similar tumor types” includes 288 bam files from whole genome, whole exome and targeted next-generation sequencing on the Illumina HiSeq2500 and MiSeq. The samples analyzed include tumor and normal tissue samples from patients with cancer.

  Dataset EGAD50000000744

• Whole-exome-sequencing and Whole-genome-sequencing and RNA-sequencing in Familial amyotrophic lateral sclerosis (ALS)

  To identify the genetic cause and modifiers of Familial amyotrophic lateral sclerosis (ALS), we performed Whole-exome-sequencing and Whole-genome-sequencing and RNA-sequencing of Familial amyotrophic lateral sclerosis (ALS) patients.

  Study JGAS000358

• NFE2 and PF4 as Translational Biomarkers for BET Inhibition-Induced Thrombocytopenia in Preclinical and Clinical Studies

  Blood samples from patients treated with BMS-986158 were investigated for association with thrombocytopenia following BET inhibition. Hypotheses of translational biomarkers for early prediction of thrombocytopenia associated with BET inhibition were explored.

  Study EGAS50000001162

• Single nucleus and spatial transcriptomic characterization of prostate cancer versus normal controls

  10x Genomics Visium and Chromium platforms were used for spatial and single-nuclei RNA-sequencing, respectively. Cohort consisted of 8 prostate cancer patients (8 prostate cancer + 8 paired non-malignant control samples, fresh-frozen)

  Study EGAS50000001143

• Whole transcriptome sequencing of pediatric T-cell acute lymphoblastic leukemia

  Pediatric T-cell acute lymphoblastic leukemia (T-ALL) is rare and its pathogenesis is poorly understood. To investigate molecular basis of pediatric T-ALL, we performed whole transcriptome sequencing in 123 cases of pediatric T-ALL.

  Study JGAS000090

• Whole-exome sequencing of pediatric solid tumors

  Pediatric solid tumors are rare, whose pathogenesis is poorly understood. To investigate the genetic basis of pediatric solid tumors, we performed whole exome sequencing in 16 rhabdmyosarcoma (RMS) cases and 7 pleuropulmonary blastoma (PPB) cases.

  Study JGAS000036

• Comprehensive analyses of genetic aberrations in cholangiolocarcinoma

  The nature of CLC is still unclear and its pathological classification still remains controversial. To clarify the positioning of CLC among primary liver cancers, and to find characteristics that could distinguish CLC from other liver cancers.

  Study JGAS000597

• Bisulfite sequencing of cell-free DNA in NMOSD patients

  Cell-free DNA was extracted from plasma and analyzed by bisulfite sequencing in Neuromyelitis Optica Spectrum Disorders(NMOSD) patients and healthy controls(HC). we aimed to investigate the primary source of cell-free DNA production.

  Study JGAS000515

• Genomic Profiling Reveals Heterogeneous Populations of Ductal Carcinoma In Situ

  Whole Exome Sequencing(WES) and copy number variation(CNV) analysis were performed using breast samples collected from non-invasive breast cancer patients in order to analysis of somatic mutations related to breast tumor phenotypes.

  Study JGAS000202

• Altered Blood and Keratinocyte microRNA/transfer RNA Fragment Profiles Related to Fibromyalgia Syndrome and its Severity

  We provide small RNA transcriptome signatures of whole blood and cultured keratinocytes, which separate FMS patients from healthy controls. This opens new perspectives for FMS diagnostics, symptom monitoring, and clinical management.

  Study EGAS50000000638

• Multimodal epigenetic sequencing analysis of cell-free DNA identifies biomarkers for ALS diagnosis and progression

  The role of the epigenome in age-related neurodegenerative disorders remains understudied. Here, we analyzed circulating cell-free DNA (cfDNA) from blood to detect methylation changes as a liquid-biopsy for Amyotrophic Lateral Sclerosis (ALS). Our study included 20 patients with sporadic ALS, 10 patients with C9orf72-associated ALS, 10 asymptomatic carriers of the C9orf72 repeat expansion mutation, and 21 non-disease controls.

  Dac EGAC50000000739

• DAC for study "Single-nucleus brain transcriptomics reveals microglia dysfunction in Multiple System Atrophy"

  Dataset containing snRNA-seq samples from MSA or PD patients, and healthy controls. We aimed at identifying molecular processes at the single cell level that could identify common and/or disease-specific differences between healthy controls and patient groups. Frozen tissue samples from healthy controls, and multiple system atrophy or Parkinson's disease patients were excised and single nuclei were isolated following the 10x Genomics Chromium workflow.

  Dac EGAC50000000809

• Transcriptional and epigenetic profiling of bone marrow blood progenitors across age

  Bone marrow from donors without known malignancy was isolated and CD34-enriched, FACS-purified to further enrich for CD34+CD38- primitive cells, and then profiled by single-cell 10X genomics chromium Multiome (RNA+ATAC).

  Study EGAS50000001623

• InsPIRE islets

  We explored the relationship between genetic variants influencing predisposition to type 2 diabetes (T2D) and related glycemic traits, and human pancreatic islet transcription using RNA-Seq and genotyping data from 420 islet donors and 26 FAC sorted beta-cells.

  Study EGAS00001003997

• Celiac disease case-control North Indian Immunochip dataset

  Illumina Immunochip genotype data for coeliac disease and control samples of North Indian samples origin. Data is in PLINK binary format. Calling algorithm for genotypes is based on GenomeStudio (GenTrain), with manual clustering of selected variants.

  Study EGAS00001000849

• Breast Cancer PDTX Encyclopaedia

  Molecular data from the collection of PDTX breast cancer models described in Bruna et al, 2016. Cell. It includes whole exome sequencing, shallow whole genome sequencing, expression arrays and reduced bisulfite representation sequencing (RRBS).

  Study EGAS00001001913

• Shwachman_Diamond_syndrome__SDS___Exome_sequencing

  Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, leukemia predisposition, and skeletal abnormalities. We aim to characterise the structural effects of SDS in patients with this disorder by exome sequencing.

  Study EGAS00001000264

• HCA_Thymus_Paediatric_ThyDesign_RNA_Managed_Access

  T cells are central to adaptive immunity and thus crucial for understanding and treating human disease. While extensively studied in model organisms, translating this knowledge to humans can sometimes be limited by their rapid cross-species evolution and diverse

  Study EGAS00001007687

• Genetics_of_gene_expression_in_human_macrophage_response_to_Salmonella

  This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/

  Study EGAS00001002236

• Edinburgh_Naevi_Cohort

  In this project we have sequenced the exome of skin moles (melanocytic naevi) and also normal skin from young and old people. We are interested in looking at the clonality of these lesions and the burden of UV mutations

  Study EGAS00001002347

• Deciphering RBP - alternative splicing networks in ALS iPSC-MN: TDP-43, NOVA1, NOVA2 and RBFOX2 eCLIP-seq

  We produced enhanced cross-linking immunoprecipitation (eCLIP) sequencing data of the RNA binding proteins (RBP) TDP-43, NOVA1, NOVA2 and RBFOX2 in iPSC motor neurons of two healthy control individuals, respectively.

  Study EGAS00001005880

• BLUEPRINT ATAC-seq data for cells in the haematopoietic lineages, from adult and cord blood samples

  BLLUEPRINT ATAC-seq data for cells in the haematopoietic lineages, from adult and cord blood samples.

  Study EGAS00001001596

• Whole exome and whole genome sequencing of juvenile myelomonocytic leukemia (JMML)

  To obtain a complete registry of gene mutations in JMML, whole-exome sequencing was performed for paired tumor-normal DNA from 13 JMML cases, of which 2 cases were also analyzed by whole genome sequencing.

  Study EGAS00001000521

• ChIP-seq data of Hodgkin lymphoma cell line L-428

  ChIP-seq data (H3K4Me3, H3K27Ac histone modifications) of Hodgkin lymphoma cell line L-428. Samples were processed as previously described (Sud et al., 2018). The files are in bam format, aligned to build 37.

  Study EGAS00001003033