1074 results for "2025年12月600642股价走势分析"

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• Targeted sequencing of 12 genes in patients with HLH

  Hemophagocytic lymphohistiocytosis (HLH) is a rapid-onset, potentially fatal hyperinflammatory syndrome. A prompt molecular diagnosis is crucial for appropriate clinical management. Here, we validated and prospectively evaluated a targeted high-throughput sequencing approach for HLH diagnostics. We have carried out high-throughput sequencing of 12 genes linked to HLH in 58 HLH patients. We achieved a diagnosis in 22 out of 58 patients (38%). Genetically undiagnosed HLH patients had a later age at onset and manifested higher frequencies of known secondary HLH triggers. Rare, putatively pathogenic monoallelic variants were identified in 9 patients. Almost all cases with reduced natural killer (NK) cell function received a diagnosis, but the majority of the prospective cases remain genetically unexplained, highlighting genetic heterogeneity and environmental impact within HLH. A complete understanding of the genetic susceptibility to HLH thus requires further in-depth investigations, including genome sequencing and detailed immunological characterization.

  Study EGAS00001001605

• LITS

  Difference in gene expression values between case and control, log2 values. Blood transcriptome from women participating in the Norwegian Women and Cancer study (NOWAC) Post-genome Cohort taken up to eight years before brest cancer diagnosis. Illumina HumanWG-6 version 3 or Illumina HumanHT-12 expression bead chip, combined on identical nucleotide universal identifiers.

  Dataset EGAD00010001400

• scRNA-seq of bronchoalveolar lavage (BAL) samples from patients with severe COVID-19 to assess dexamethasone response in the lungs

  Single-cell RNA-sequencing of bronchoalveolar lavage (BAL) samples from patients with severe COVID-19 with or without Dexamethasone treatment and for responders and non-responders was performed using 10x Genomics technology.

  Dataset EGAD50000000292

• RNAseq of samples from CLL patients treated with ibrutinib in vivo

  The dataset contains RNA sequencing data from 22 paired samples of 11 patients before and during ibrutinib therapy (median time on therapy 2 weeks; range 1-12 weeks). The sequencing was performed in two batches.

  Dataset EGAD50000000879

• scRNA-seq and Amplicon data for MPN/HC samples

  This data set contains scRNA-seq data from MPN patients and healthy individuals. It is accompanied by amplicon data for the JAK2V617F mutation. For each individual an INFa treated and untreated sample is included.

  Dataset EGAD50000001321

• RNA-sequencing of PBMCs from COVID-19 patients experiencing different degrees of the disease (mild and critical), and control patients

  Bulk RNA-sequencing of peripheral blood mononuclear cells collected from mild COVID-19 (n = 4), critical COVID-19 (n = 12) and control (n = 8) patients. Sequencing data is provided as FASTQ files.

  Dataset EGAD50000001405

• Genome editing strategies to generate working models in Polycystic Kidney Disease

  Bulk RNA-seq of genome-edited HEK293T cell lines engineered to model specific PKD1 variants. These clones were created with the purpose of enabling the exploration of genotype-phenotype correlations in Polycystic Kidney Disease (PKD)

  Dataset EGAD50000001694

• Mantle cell lymphoma primary cases RNAseq data

  Dataset includes fastq transcriptomic sequencing files from 8 conventional (SOX11+) and 4 non-nodal (SOX11-) mantle cell lymphoma (MCL) primary cases. RNA-sequencing has performed from peripheral blood and lymph node diagnostic samples.

  Dataset EGAD00001009422

• 2018 AML-ETO WGS analysis result

  This data is belong to 2018 AML-ETO patients' genome data which is aligned to human reference(human_g1k_v37.fasta). There are 12 paired tumor/normal samples from SNUH. All samples has passed QC and recalibration steps while aligning to reference.

  Dataset EGAD00001003912

• CTD-ILD BALF and blood scRNA-seq dataset

  CTD-ILD BALF and blood scRNA-seq dataset consists of single-cell transcriptome data of bronchoalveolar lavage fluid (BALF) and blood derived from 30 connective tissue disease-associated interstitial lung disease (CTD-ILD) and 12 idiopathic interstitial pneumonia (IIP) patients.

  Dataset EGAD00001011334

• Autism Post-Mortem Brain RNA-Sequencing: SRRM4 Splicing Study

  Purpose: The goal of this study was to assess the status of splicing changes in microexons in the cortex of individuals with autism. Methods: We performed RiboZero Gold (rRNA depleted) 50bp PE RNA-seq in a larger set of case and control samples to define 12 autism and 12 control samples showing the greatest global differential gene expression change. These samples, which show differential expression of the splicing regulator SRRM4, were used to evaluate global splicing changes. Results: Within these samples, 126 of 504 (30%) detected alternative microexons display, a mean ΔPSI > 10 between ASD and control subjects of which 113 (90%) also display neural-differential regulation. By contrast, only 825 of 15,405 (5.4%) longer (i.e. > 27 nt) exons show such misregulation, of which 285 (35%) correspond to neural-regulated exons. Notably, we also observe significantly higher correlations between microexon inclusion and nSR100 mRNA expression levels across the stratified ASD samples and controls, for those microexons regulated by nSR100 relative to those microexons that are not regulated by this factor (p=1.4x10-7, Wilcoxon Sum Rank test). Conclusions: These data suggest microexon regulation is a potentially important mechanism underlying ASD and likely other neurodevelopmental disorders.

  Study phs000872

• Single_Cell_Sequencing_of_Sperm__scSperm_

  The aim of this project is to genotype and sequence single spermatozoa from two men, one in his twenties and the other in his seventies. The resulting data is used to quantify the mutations that have arisen in the gametes of both individuals in order to better understand the effect of aging on mutation rates and modes.Project Outline. In order to quantify mutations, semen from two individuals are sequenced. 48 single sperm cells are isolated from each individual, and their DNA is extracted. The resulting genomes are amplified using PicoPlex, GenomiPhi MDA, Repli-G MDA, and MALBAC. QC step is applied to check the quality of WGA DNA using standard Sequenom plex (26 SNPs). A subset of 32 amplification products which pass the intiall QC, are genotyped using Affymetrix SNP6 chips. 12 of the genotyped amplification products are also sequenced. In addition, one multi-cell sample per individual is sequenced as a reference and for validation purposes.Altogether, 12 single cell sperm genomes and two multi-cell genomes are sequenced, coming to a total of 14 genomes. Of the single cell sperm genomes, 2 are sequenced to 50x coverage, and the other 10 to 25x coverage. Both multi-cell genomes are sequenced to 25x coverage.

  Study EGAS00001000935

• Genetics of Antinuclear Antibodies

  Antinuclear antibodies (ANA) are antibodies that react against self-antigens in the cell. While it has been reported that 12 to 20% of the general population have a positive ANA test, the genetics of ANA positivity is unknown. We performed a genome wide-association study for positive ANA tests among individuals without an ANA related autoimmune disease in the Vanderbilt University Medical Center (VUMC) DNA biobank linked to the de-identified electronic health record (EHR) system. The study is funded by the National Institute of Arthritis and Musculoskeletal and Skin diseases (NIAMS) grant R01AR076516.

  Study phs003189

• ATAC sequencing of Treg cell subsets

  Within the investigator-initiated clinical trial Charact-IL-2 (ClinicalTrials.gov Identifier: NCT03312335), we treated 12 female systemic lupus erythematosus patients with low-dose interleukin-2. From this study we identified four distinct interleukin-2-driven regulatory T (Treg) cell subsets. This study aimed at defining chromatin accessability and predict transcriptional regulation of HLA-DR– CD38– Treg cells, HLA-DR+ CD38– Treg cells, HLA-DR– CD38+ Treg cells, and HLA-DR+ CD38+ Treg cells. Treg cell subsets were isolated from 500ml blood pooled from four healthy donors by flow cytometry sorting.

  Study EGAS50000000457

• Encompassing view of spatial and single-cell RNA-seq renews the role of the microvasculature in human atherosclerosis

  Atherosclerosis is a pervasive contributor to ischemic heart disease and stroke. Despite the advance of lipid lowering-therapies and antihypertensive agents, the residual risk of an atherosclerotic event remains high and developing therapeutic strategies has proven challenging. This is due to the complexity of atherosclerosis with a spatial interplay of multiple cell types within the vascular wall. Here we generate an integrative high-resolution map of human atherosclerotic plaques combining single-cell RNA-seq from multiple studies and spatial transcriptomics data from 12 human specimens, with different stages of atherosclerosis. We show cell-type and atherosclerosis-specific expression changes and spatially constrained alterations in cell-cell communication. We highlight the possible recruitment of lymphocytes via ACKR1 endothelial cells of the vasa vasorum, the migration of vascular smooth muscle cells towards the lumen by transforming into fibromyocytes, and cell-cell communication in the plaque region, indicating an intricate cellular interplay within the adventitia and the subendothelial space in human atherosclerosis.

  Dataset EGAD50000000936

• Arcagen - Extra-pulmonary neuroendocrine tumour or cancer grade 3 (NET / NEC G3) domain

  Arcagen is an EORTC/SPECTA pan-European project that aims to recruit 1000 rare cancer patients from different tumour domains of EURACAN. This study collected samples from advanced or metastatic rare cancer from patients older than 12, and analysed them using Foundation Medicine next-generation sequencing (NGS) panels (FoundationOne CDx for FFPE samples or FoundationOne Liquid CDx for blood samples). Here were are submitting the dataset that contains NGS files from patients with extra-pulmonary neuroendocrine tumour or cancer grade 3 (NET / NEC G3) (n=85).

  Study EGAS50000000644

• Epigenetics/genetics of the patient-derived xenografts of pediatric T-cell leukemia

  We compared 12 pediatric T cell acute lymphoblastic leukemias collected at initial diagnosis and relapse with their corresponding PDX models. The analysis was performed on genomic level (whole genome sequencing (WGS), whole exome sequencing (WES), multiplex ligation probe amplification (MLPA), targeted sequencing) and the epigenetic level (DNA methylation, Assay for Transposase-Accessible Chromatin sequencing (ATAC-seq)). In sum, this study underlines the remarkable genomic stability, and for the first time documents the preservation of the epigenomic landscape in T-ALL-derived PDX models.

  Study EGAS00001003248

• KIR gene content imputation from single-nucleotide polymorphisms in the Finnish population

  The killer cell immunoglobulin-like receptor (KIR) gene cluster on chromosome 19 encodes cell surface glycoproteins that bind class I human leukocyte antigen (HLA) molecules as well as some other ligands. KIR gene gene copy number variation associates with the outcome of transplantations and susceptibility to immune-mediated diseases. Here we describe a stand-alone and freely available gene content imputation for 12 KIR genes. The models were trained using 818 Finnish biobank samples genotyped for 5774 KIR-region SNPs and analysed for KIR gene content with targeted sequencing.

  Study EGAS00001005457

• AfricanNeo aDNA Study

  With the largest genomic dataset to date of Bantu-speaking populations, including newly generated data of modern-day and ancient DNA from previously unsampled regions in Africa, we shed fresh light on the expansion of peoples speaking Bantu languages that started ~4000 years ago in western Africa. We have generated whole-genome sequences from 12 Late Iron Age individuals. Our comprehensive genetic analysis of the expansion of people speaking Bantu languages reveals a complex history of serial founder events, variable levels of contact with local groups, and spread-over-spread events.

  Study EGAS00001007519

• Single-cell RNA sequencing data of human lymph node samples generated with BD Rhapsody

  The single cell data were generated based on four cartridges. The samples are multiplexed: 0. Sample Run Id Hash Gender Age 1. FL-6 Run1_C1 4 f 71 2. rLN-3 Run1_C1 6 f 72 3. DLBCL-4 Run1_C1 7 f 68 4. DLBCL-1 Run1_C1 8 m 66 5. FL-4 Run1_C1 9 m 41 6. DLBCL-3 Run1_C2 10 f 60 7. rLN-4 Run1_C2 11 f 58 8. rLN-5 Run1_C2 12 m 61 9. FL-1 Run2_C1 1 f 81 10. DLBCL-2 Run2_C1 2 m 80 11. rLN-2 Run2_C1 3 f 42 12. FL-5 Run2_C1 4 m 66 13. DLBCL-8 Run2_C1 5 m 64 14. DLBCL-6 Run2_C2 6 m 76 15. rLN-1 Run2_C2 7 m 39 16. FL-3 Run2_C2 8 f 76 17. DLBCL-5 Run2_C2 9 m 66 18. FL-2 Run2_C2 10 f 58 19. DLBCL-7 Run2_C2 11 f 71

  Dataset EGAD00001010044

• INCLIVA-CC-WES

  This dataset consists of WES NGS paired-end raw data (FASTQ R1, R2 and UMI sequence) obtained from 25 localised colon cancer patients. Specifically, we have 25 primary tumor tissue samples, 17 metastatic tissues, 25 white blood cell samples, 25 plasma samples collected at relapse, 12 baseline plasma samples and 15 plasma samples post-surgery.

  Dataset EGAD50000000293

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

  To elucidate the heterogeneity of tumour immune cell infiltration, we performed single cell RNAseq sequencing on CD45+ cells enriched from matched fresh tumour tissue following surgical resection of 12 treatment-naïve patients and matched PBMCs.

  Dataset EGAD50000001008

• Single cell RNA-seq CD8 T cells from elder adults

  Single cell RNA-seq profiling of ~62k purified CD8+ T cell transcriptomes, from six healthy older adult donors using 10X genomics. Cells from each donor were separated based on their IL-7R protein expression (i.e. CD8+ IL7R+ and CD8+ IL7R- T cells).

  Dataset EGAD00001006000

• scRNAseq/snucRNAseq of human implantation sites, placenta and decidua

  This dataset is part of a study that aims to provide a spatially resolved single-cell multiomics map of human trophoblast differentiation in early pregnancy. This dataset contains snucRNAseq; from three human implantation sites (between 8 and 12 post-conceptional weeks, PCW) from medical hysterectomies.

  Dataset EGAD00001010037

• Whole exome sequencing of pdx models of 2 patients with metastatic colorectal cancer

  Paired fastq files ( 12 pairs, WES) of EGFR treated and untreated PDX models of mCRCs of 2 patiens sequenced on Illumina HiSeq 2000, the enrichment kit was Agilent SureSelect V5+UTRs.

  Dataset EGAD00001007713