12498 results for ""non-traditional+communal+storytelling+approach"+novel+segment+noted+in+critical+commentary"

in 154.54 milliseconds.

• Single-cell multiomics reveals the interplay of clonal evolution and cellular plasticity in hepatoblastoma

  Dataset EGAD00001010049

• DAC for DRS peripheral blood, University Medical Center Johannes Gutenberg University Mainz

  This DAC is in relation to the DRS samples of peripheral blood of healthy control

  Dac EGAC50000000667

• WGSPD Project 3 UCLA DAC

  Data Access Committee to review applications to access Whole Genome Sequencing in Psychiatric Disorders (WGSPD) Project 3 data (WGS) from Dutch cohorts.

  Dac EGAC50000000442

• U12 Spliceosome Defect Data Access Committee

  This Data Access Committee controls access to data pertaining to the study of the minor spliceosome and it's role in monogenic diabetes.

  Dac EGAC50000000892

• RNAseq data for EGAS00001004572

  Bulk RNA-seq data of tumours in EGAS00001004572.

  Dataset EGAD00001006876

• COVID-19 Postmortem Medulla and Olfactory Mucosa snRNA-seq

  Time-dependent characterization of CNS response in COVID-19

  Dataset EGAD00001009075

• WGBS files for PCGP NBL_MYCN_ATRX

  WGBS files for PCGP NBL_MYCN_ATRX paper titled "MYCN Amplification and ATRX Mutations are Incompatible in Neuroblastoma"

  Dataset EGAD00001004559

• RTKs in Multiple Myeloma

  Cancer amplicon reads consisting of BAM paired end reads from primary multiple myeloma samples.

  Dataset EGAD00001001935

• subset of dataset EGAD00001002528, as used in EGAS00001004517

  linking 3 samples out of EGAD00001002528 to EGAS0001004517

  Dataset EGAD00001006263

• Maternal Plasma Folate and DNA Methylation in Epigenome-Wide Meta-Analysis of Newborns

  Folic acid is routinely recommended for women trying to conceive to ensure proper fetal development. Mechanisms whereby periconceptional folate influences normal development and disease are poorly understood: epigenetics may be involved. This data represents meta-analysis results from a large epigenomics study to examine the association between maternal plasma folate during pregnancy and epigenome-wide DNA methylation using Illumina's HumanMethyl450 (450K) Beadchip in 1,996 newborns from two European cohorts. Results for all CpGs analyzed (419,905) are provided. These data may be downloaded through the dbGaP Authorized Access portal under phg000701.v1.

  Study phs001059

• Studies in the Pathogenesis of Systemic Capillary Leak Syndrome (SCLS, Clarkson Disease)

  Systemic capillary leak syndrome (Clarkson disease) is an ultra-rare disease of unknown etiology. Patients experienced transient and recurrent episodes of hypotensive shock and massive peripheral edema due to plasma extravasation, often precipitated by minor viral infections. Disease onset occurs most frequently in middle age, and there is no family history. More than 90% of patients with the disease have monoclonal gammopathy of unknown significance (MGUS). The goal of the study is to determine pathogenic mechanisms and identify genetic underpinnings of the disease. Toward this end, we performed whole genome sequencing (WGS).

  Study phs003261

• Type I Interferon and Cycling Lymphocytes in Macrophage Activation Syndrome

  We performed immune profiling of peripheral blood mononuclear cells from patients with Still's disease and macrophage activation syndrome (MAS) using bulk RNA sequencing and single-cell RNA sequencing. Three groups were included in the study: healthy controls, patients with Still's disease without macrophage activation syndrome, and patients with Still's disease and macrophage activation syndrome. We found that macrophage activation syndrome is associated with transcriptomic signatures of interferon upregulation and cell cycling. We identified cycling lymphocytes within T cell and NK cell populations that are correlated with MAS disease activity. All sequencing data are available through dbGaP.

  Study phs003310

• EWS-WT1 Fusion Isoforms Establish Oncogenic Programs and Therapeutic Vulnerabilities in Desmoplastic Small Round Cell Tumors

  Desmoplastic Small Round Cell Tumor (DSRCT) is an aggressive mesenchymal tumor driven by fusions between the disordered domain of the Ewing sarcoma RNA binding protein 1 (EWSR1) and the developmental transcription factor Wilms tumor 1 (WT1). We used genome-wide chromatin profiling to identify EWSR1-WT1-dependent gene regulatory networks and target genes. Our studies show that EWS-WT1 is a powerful activator of distal regulatory elements and controls an oncogenic gene expression program that characterizes primary DSRCTs. ChIP-seq profiles for histone marks in primary DSRCT samples are available through dbGaP.

  Study phs003682

• ScRNA-seq of human kidney immune cells of patients with ANCA-associated glomerulonephritis, Lupus Nephritis against a healthy nephrectomy control

  ANCA-associated glomerulonephritis (AGN) associates with a high risk of end-stage kidneydisease. The role of kidney immune cells in local inflammation remains unclear. This study investigates kidney immune cell diversity and function. Kidney tissue from AGN patients (n=5) and a lupus nephritis (LN) patient (n=1) were aquired during a biopsy procedure for a clinical indication. Needle-core biopsies were obtained for histopathological examination, and an additional pass was performed to retrieve kidney tissue for scRNA-seq. Healthy kidney tissue (n=1) was obtained from a kidney that was surgically removed do tue due to a (non-invasive) papillary urothelial carcinoma. Immediately after collection, kidney tissue was processed into a single-cell suspension and sorted using a 4-color flow cytometry panel to isolate living, CD45+immune cells. To aid in the multi-omic characterization, surface markers and T and B cell repertoires were sequenced in 2 samples (1 AGN patient and the nephrectomy control). These samples were incubated with an oligo-antibody TotalSeq-C cocktail containing 130 unique cell surface antigens.

  Dataset EGAD50000000229

• Distinct immune cell infiltration patterns in pancreatic ductal adenocarcinoma (PDAC) exhibit divergent immune cell selection and immunosuppressive mechanisms

  Pancreatic ductal adenocarcinoma has a dismal prognosis. A comprehensive analysis of single-cell multi-omic data from matched tumour-infiltrated CD45+ cells and peripheral blood in 12 patients, and two published datasets, reveals a complex immune infiltrate. Patients have either a myeloid-enriched or adaptive-enriched tumour microenvironment. Lymphocyte enrichment is intrinsically linked with highly distinct B and T cell clonal selection, diversification, and differentiation. Using TCR data, we see the largest clonal expansions in CD8 effector memory, senescent cells, and highly activated regulatory T cells which are induced within the tumour from naïve cells. We identify pathways that potentially lead to a suppressive microenvironement, including targets of immunotherapy and checkpoints including TIGIT/PVR and SIRPA/CD47. PDAC patient tumors from the APACT clinical trial revealed that patients with myeloid enrichment had the shorter overall survival compared to those adaptive cell enrichment. We identify multiple therapeutic targets that should form the basis for rational design including boosting of B cell responses, targeting immunosuppressive macrophages, and specific Treg depletion approaches. The dataset is scRNA-seq data from PDAC patients.

  Dac EGAC50000000319

• Psoriasis Patient PBMC scRNA-seq data

  This dataset contains raw and processed data of four scRNA-seq PBMC samples from four Psoriasis patients (Pso3 = male, Pso4 = female, Pso7 = female, Pso8 = male). Raw sample libraries were prepared with 10x 5'-kit v2 multiplexing the individual samples using TrueSeq barcoded antibodies to stain the cells. Resulting sequencing data consists of four FASTQs (2 x antibody multiplex to demultiplex the samples + 2 x transcriptome data containing the typical cell x UMI barcode data for count matrix generation). The raw sequencing data was processed with cellranger 6.0.1 with the GRCh38 3.0.0 reference and cell to sample assignment was subsequently done with couhto 1.1.0 (https://github.com/dmalzl/counhto) employing the same algorithm as cellranger multi (couldn't be used here though as multi does not handle 5'-chemistry data). Processed data contains all main outputs of cellranger count in raw text format or in h5 formats including the used feature reference for (i.e. antibody barcode to sample assignment) as well as the computed cell to sample assignment computed by counhto. For further details including all used code in the analysis of the data please consult https://doi.org/10.5281/zenodo.13846873

  Dataset EGAD50000001102

• Mechanism of Decitabine response in MDS/AML patients

  Myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) with complex or monosomy karyotype show high prevalence of TP53 mutations (TP53m), poor response to induction chemotherapy and adverse outcome. These diseases may respond to decitabine but the mechanisms are presently unclear. This study investigates MDS/AML patients who were treated with decitabine for 10 days in a Phase II clinical trial. Serial samples were collected from patients before and at completion of decitabine treatment, morphologic remission and relapse. The samples were interrogated using single-cell transcriptomics to investigate potential interactions between leukemic and immune populations."

  Study EGAS50000000924

• M116 scRNA-seq

  scRNA-seq was performed using Chromium Next GEM Single Cell 3’ Kit v3.1 (10X Genomics) according to the manufacturer’s instructions. Briefly, M116's PBMCs were thawed and quantified in order to calculate the number of cells to be loaded. Then, barcoded Single Cell 3ʹ Gel Beads, a master mix containing PBMCs, and Partitioning Oil were combined onto the Chromium Next GEM Chip G to generate Gel Beads-In-Emulsion (GEMs), where polyadenylated mRNAs were reverse transcribed. This way, all generated cDNAs from the same cell shared a common 10X Barcode. Following the reverse transcription, GEMs were broken and cDNAs were amplified and cleaned up with SPRIselect beads (Beckman Coulter®). Next, a portion of these cDNAs were enzymatically fragmented and subjected to adaptor ligation before using them as a PCR template for the incorporation of i5/i7 indexes. Finally, libraries were purified with SPRIselect beads, quantified and quality checked by using the 2200 TapeStation (Agilent®), and subjected to paired-end 150-bp sequencing (Novaseq systems, Illumina®) following standard practices at external facilities (Novogene®). Files types included in this dataset are raw Fastq files.

  Dataset EGAD50000001289

• Targeted capture, whole genome sequencing, and RNAseq to identify rearrangements in B-cell lymphomas

  This study contains whole genome and custom targeted capture sequencing of mature B-cell lymphomas (DLBCL, FL, BL, HGBCL-DH-BCL2, HGBCL-DH-BCL6) to identify translocation breakpoints of common oncogene rearrangements (MYC, BCL2, BCL6). It is complemented by RNAseq data where available. Complete details are available in the publication Hilton et al, 2024, Blood. Capture sequencing: 357 samples; 364 unique libraries; cram file format aligned to hg38 Whole genome sequencing: 12 samples; 12 unique libraries; cram file format aligned to grch37 RNAseq: 257 samples; 257 unique libraries; fastq file format

  Study EGAS50000000328

• Expression quantitative trait loci analysis using human immune cells in a Japanese population

  Recent evidence suggests that a substantial portion of complex disease risk alleles modify gene expression in a cell-specific manner. Therefore, it is reasonable to expect that cell-specific expression quantitative trait loci (eQTL) analysis can identify the candidate causal mechanisms of complex diseases (an eQTL is a variant whose polymorphism affects gene expression). We fractionated peripheral blood from 105 healthy Japanese volunteers into five major immune cell subsets (CD4+ T cells, CD8+ T cells, B cells, NK cells, and monocytes). We quantified gene and exon expression by RNA sequencing, and tested associations with neighboring common variants (MAF ? 0.05).

  Study JGAS000085

• Single cell transcriptomic and genomic profiling of carcinogenesis in patients with familial adenomatous polyposis

  Familial Adenomatous Polyposis (FAP) is characterized by hundreds to thousands of adenocarcinomas at different evolutional stages in the colon and rectum. Much effort has been made to illuminate the key genomic alterations that facilitate the transition from adenoma to carcinoma. However, the strong heterogeneity of the tumors may hamper these efforts. Here, by sequencing matched adjacent normal tissues, adenomas at different stages and carcinomas from the same patient, we precisely traced the process of colorectal carcinogenesis. Our study offers an accurate genomic landscape during the initiation and progression of carcinogenesis, especially for the transition between adenomas and carcinomas.

  Study EGAS00001003598

• Characterization of four subtypes in morphologically normal tissue excised proximal and distal to breast cancer

  Our study provides insight into molecular alterations in HN tissues within the affected breast and offers a greater understanding of the spatial implications of these aberrations. This was achieved by performing a comprehensive analysis of RNA sequencing data and proteomic profiles from breast cancers (n=19) and their matched HN tissues (n=38), healthy breast from cosmetic reduction mammoplasty (RM; n=5), and risk reducing mastectomies (RR, n=5), with peritumoral samples excised at proximal (TP, <2 cm) and distal (TD, 5-10 cm) sites from the primary tumor.

  Study EGAS00001004510

• Identification of hypermutation and defective mismatch repair in ctDNA from metastatic prostate cancer

  DNA mismatch repair defects (MMRd) and tumor hypermutation are rare and under-characterized in metastatic prostate cancer. Furthermore, since hypermutated MMRd prostate cancers can respond to immune checkpoint inhibitors, there is an urgent need for practical detection tools. We analyzed cell-free DNA targeted sequencing data from 434 metastatic prostate cancer patients with circulating tumor DNA (ctDNA) purity above 2%. Samples with somatic hypermutation were subjected to 150x whole exome sequencing. These data allowed us to interrogate the salient genomic properties of this rare prostate cancer subtype and correlate findings with patient clinical outcomes.

  Study EGAS00001003899

• Benchmarking of ProSolo, a new probabilistic single nucleotide variant caller for single cell DNA sequencing data. This study provides the whole exome sequencing dataset used in this assessment.

  Benchmarking of ProSolo, a new probabilistic single nucleotide variant caller for single cell DNA sequencing data that provides control over the false discovery rate of different single cell events at genomic sites (e.g. alternative allele presence or allele dropout). Here, we provide the newly generated whole exome sequencing data used in assessing ProSolo's performance. It contains whole exome sequencing of: a patient with a constitutional mismatch repair defect (MSH6-) and their parents and siblings, a granulocyte bulk sample and 5 single granulocytes sequenced after whole genome amplification.

  Study EGAS00001004123

• NOTCH-mutations drive immune-escape mechanisms in B cell malignancies

  Here we provide access to MCL expression data that were used for interrogating the molecular functions of NOTCH1 and NOTCH2, which are two of the most commonly mutated genes in CLL and MCL and associated with a poor clinical outcome. The mechanisms underlying how NOTCH1 contributes to disease progression, resistance to treatment and Richter’s transformation remain largely unknown. The main goal of this study is to compare the gene expression profile of primary MCL cells transduced with the intracellular part of NOTCH1 or NOTCH2 lacking of the PEST domain vs cells transduced with an empty vector.

  Study EGAS00001005793