11801 results for "cancer rna-seq"

in 11.52 milliseconds.

• Mapping Systemic Lupus Erythematosus Heterogeneity at the Single Cell Level

  Patients with Systemic Lupus Erythematosus (SLE) display a complex blood transcriptome whose cellular origin is poorly resolved. Using single-cell RNA-seq, we profiled ~276,000 PBMCs from 33 children with SLE (cSLE) with different degrees of disease activity (DA) and 11 matched controls. Increased expression of Interferon-stimulated genes (ISGs) distinguished cSLE from healthy control cells. The high-ISG expression signature (ISGhi) derived from a small number of transcriptionally defined subpopulations within major cell types, including monocytes, CD4+ and CD8+ T cells, NK cells, cDCs, pDCs, B cells and especially plasma cells. Expansion of unique subpopulations enriched in ISGs and/or in monogenic Lupus-associated genes classified patients with the highest DA. Profiling of ~82,000 single PBMCs from adult SLE patients confirmed the expansion of similar subpopulations in patients with the highest DA. This study lays the groundwork for resolving the origin of the SLE transcriptional signatures and the disease heterogeneity towards precision medicine applications. Patient demographics, clinical and laboratory data and treatment are summarized and available. The genomic data for participant aHD2 will not be included in the dataset The study description is reprinted from Nehar-Belaid et. al. Nature Immunology, 2020, with permission from Nature Immunology Group

  Study phs002048

• An RCOR1 loss-associated gene expression signature identifies a prognostically significant DLBCL subgroup

  Effective treatment of diffuse large B cell lymphoma (DLBCL) is plagued by heterogeneous responses to standard therapy, and molecular mechanisms underlying unfavorable outcomes in lymphoma patients remain elusive. Here, we profiled 148 genomes with 91 matching transcriptomes in an R-CHOP-treated DLBCL cohort to uncover molecular subgroups linked to treatment failure. Systematic integration of high-resolution genotyping arrays and RNA-seq data revealed novel deletions in RCOR1 to be associated with unfavorable progression free survival (P = 0.001). Integration of expression data from the clinical samples with data from RCOR1 knockdowns in the lymphoma cell lines KM-H2 and Raji yielded an RCOR1 loss-associated gene signature comprising of 233 genes. This signature identified a subgroup of patients with unfavorable overall survival (OS) (P = 0.023). The prognostic significance of the 233-gene signature for OS was reproduced in an independent cohort comprising of 195 R- CHOP treated patients (P = 0.039). Additionally, we discovered that within the IPI low risk group, the gene signature provides additional prognostic value that was independent of the cell-of-origin phenotype. Taken together, we present a novel and reproducible molecular subgroup of DLBCL, impacting risk-stratification of R- CHOP treated DLBCL patients and revealing a new avenue for therapeutic intervention strategies.

  Study EGAS00001001000

• Stereotyped B-cell responses are linked to IgG constant region polymorphisms in multiple sclerosis

  Clonally related B cells infiltrate the brain, meninges, and cerebrospinal fluid of multiple sclerosis (MS) patients, but the mechanisms driving the B-cell response and shaping the immunoglobulin repertoires remain unclear. Here, we used single-cell full-length RNA-seq and B-cell receptor reconstruction to simultaneously assess the phenotypes, isotypes, constant region polymorphisms, and the paired heavy- and light-chain repertoires in intrathecal B cells. We detected extensive clonal connections between the memory B cell and antibody-secreting cell compartments and observed clonally related cells of different isotypes, including IgM/IgG1, IgG1/IgA1, IgG1/IgG2, and IgM/IgA1. There was a strong dominance of the G1m1 allotype constant region polymorphisms in antibody-secreting cells, but not in memory B cells. Tightly linked to the G1m1 allotype, we found a preferential pairing of the immunoglobulin heavy-chain variable (IGHV)4 gene family with the κ variable (IGKV)1 gene family. The IGHV4-39 gene was most used and showed the highest frequency of pairing with IGKV1-5 and IGKV1(D)-33. These results link IgG constant region polymorphisms to stereotyped B-cell responses in MS and indicate that the intrathecal B-cell response in these patients could be directed against structurally similar epitopes.

  Study EGAS00001005745

• H3K27ac ChIP-seq of lung neuroendocrine tumors

  H3K27ac ChIP-seq of lung neuroendocrine tumors

  Study EGAS50000000057

• CD4 T-Cell ChIP-Seq

  CD4 T-Cell ChIP-Seq

  Dataset EGAD00001002686

• Chip-Seq

  27 Chip-Seq samples from Human CD4+ T cells

  Dataset EGAD00001010181

• ChIP-seq and 4C-seq datasets in megakaryocytes and granulocytes from individuals with QPD and unaffected controls

  ChIP-seq was performed for the following histone modifications in both megakaryocytes and granulocytes: H3K27ac, H3K4me2, and H3K36me3. ChIP-seq was performed for H3K27me3 and CTCF in megakaryocytes only. All ChIP experiments consist of n=3 replicates for each of QPD and Control, with the exception of control granulocyte H3K4me2 for which only n=2 replicates were performed. 4C-seq datasets consist of 2 viewpoints (PLAU promoter and an intergenic enhancer), profiled in megakaryocytes from n=2 controls and n=4 QPD.

  Dataset EGAD00001006048

• scRNA-seq and scATAC-seq data of human cardiac fibroblasts

  6 scRNA-seq and 4 scATAC-seq datasets on cardiac fibroblasts derived from two patients (P1, P2). The sequencing dataset consists of two control samples pretreated with vehicle (resting, only scRNA-seq data available); two samples stimulated with TGFb; and two samples pre-treated with KAT5 inhibitor, followed by stimulation with TGFb (iKAT5).

  Dataset EGAD50000001224

• exercise cfChIP-seq

  cfChIP-seq using an H3K4me3-specific antibody of 9 plasma samples collected after marathon run. cfChIP-seq was performed as described in Sadeh et al. 2021. dataset contains paired-end fastq files and BAM files of raw sequencing data.

  Dataset EGAD00001010284

• H3K27me3 ChIP-Seq of 6 samples and H3K27ac ChIP-Seq of 4 samples with respective input controls

  H3K27me3 ChIP-Seq of 6 samples and H3K27ac ChIP-Seq of 4 samples with respective input controls

  Dataset EGAD00001004992