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• Mixtures of 5-9 individuals

  Deconvoluted files of the 5-9 individuals of in silico datasets (combination of biological mixture sequencing and publicly available data). The dataset includes the phenotypes used for clustering.

  Dataset EGAD00001008725

• Cellular Heterogeneity in Early Human Development at Stage CS16

  In this study, we applied 10x Genomics Multiome assays for single-nucleus profiling of gene expression and chromatin accessibility simultaneously to a Carnegie stage 16 (37-42 days) specimen. These data can be used to identify and characterize diverse human cell types and annotate them with respect to marker genes, expression, and regulatory modules. These data comprise a rich resource for the exploration of human biology.

  Study phs003532

• RNA-sequencing of primary urothelial bladder cancer samples

  Paired-end RNA-sequencing of tumour tissue samples (n=85) from primary urothelial bladder cancer patients. Sequencing was performed using either HiSeq (n=27) or NextSeq (n=58) Illumina platforms. Of the 85 samples, 78 are Non-muscle invasive (NMIBC) and 7 are Muscle invasive (MIBC).

  Dataset EGAD00001007005

• Fastq files for the single cell RNAseq data of Follicular lymphoma study

  Fastq files for the single cell RNAseq data of Follicular lymphoma study. This dataset includes the paired single cell RNA sequencing data for 23 samples.

  Dataset EGAD00001008595

• TRIGR collaboration between University of Helsinkin and Children's Mercy Research Institute

  DAC for collaborations between by the University of Helsinki and Children's Mercy Hospital, such as the Trial to Reduce IDDM in the Genetically at Risk (TRIGR), used to study the evolving epigenomics of immune cells in type 1 diabetes at single nuclei resolution

  Dac EGAC50000000543

• Exome chip data 943 PDAC cases and 3,908 controls

  The illumina exome chip genotyping data for 943 PDAC cases and 3,908 controls in the Chinese population. Genotypes were called by the Illumina GenomeStudio software, and the selected variants were re-called by zCall. Standard quality control were performed.

  Dataset EGAD00001004168

• Development of hunanized mice for human hematopoisis and immunity research

  We obtained peripheral blood or bone marrow samples from 112 acute myeloid leukemia patients and examined sensitivity and resistance of the AML samples to molecular targeting drugs. By doing RNA sequencing using AML cells, we found heterogenous gene expression patterns in AML with different mutational landscapes. From the RNA sequencing, we identified anti-apoptosis, cell cycle progression, and immune-related signals as pathways up-regulated in AML cells as compared with normal CD34+ cells. From the pathway analyses, we further setup in vitro experiments to find vulnerability genes in clinically-aggressive AML. BIRC, BCL2, MCL1, AURKB, and KIF10 may be essential molecules for AML cell survival and proliferation.

  Study JGAS000253

• Data Access Committee for the Medulloblastoma Host Genome Study

  Dac EGAC00001000910

• The data usage policy for epigenomic profile of diverse cancer

  Dac EGAC00001001540

• DAC for de-methylation of the FOXP3-TSDR study

  Dac EGAC00001001902

• AmsterdamUMC Data Access Committee for the EPIC-CD study

  Dac EGAC00001003480

• The EMC-HEMA-SCN DAC for severe congenital neutropenia data

  Dac EGAC00001003590

• Uncovering Principles of Adaptive Regulation in Cancer Resistance Through Deep Evolutionary Profiling

  A comprehensive understanding of the emergence of therapy resistance in cancer requires new approaches capable of generating and characterizing drug resistant cell lines at scale. Here, we present the EVolution Of Lineages in Vitro (EVOLV) platform, a high-throughput approach for generating diverse libraries of viable, drug-resistant cell lines from a common progenitor. EVOLV enables deeper insights into the genomics of drug resistance as well as into the complex interplay among genomic, transcriptomic, and functional layers during cancer evolution.

  Study phs003851

• Target sequencing for 53 synovial sarcoma patients

  This dataset contains 138 .bam files sequenced with Illumina NovaSeq 6000. The files with the variant calling performed to the sequencing data, as well as the clinical data (phenotype) extracted during the sample extraction.

  Study EGAS50000000522

• shallow Whole-Genome sequencing of 14 TNBC tumor in the MATADOR trial - for in silico spike-in experiment

  14 TNBC tumors with tumor percentage ~90% were selected for in silico spike-in experiment

  Dataset EGAD50000001863

• MT sequencing reads from WGS of 10 Egyptian individuals

  This data set contains for 10 Egyptian individuals the WGS reads mapping to chrM. These were subsequently used for haplogroup assignment.

  Dataset EGAD00001006038

• consHLA extra samples for comparison with clinical HLA types

  Samples not in other datasets for the paper titled; consHLA: a Next Generation Sequencing Consensus-based HLA Typing Workflow

  Dataset EGAD00001015625

• Head and Neck Organoid Biobank cohort, Issing et. al., 2025, RNA + WES data

  This dataset contains the raw fastq files of RNA and whole exome sequencing of the head and neck organoid biobank. For RNA sequencing, 41 organoid samples collected at different timepoints as well as before and after genetic modification are included. For WES, 25 samples of early organoid cultures or matching tumor tissues are included.

  Dataset EGAD50000001733

• CANCAP03 single-nuclear RNA sequencing

  CANCAP03 single-nuclear RNA sequencing. Tissue punch cores for six patients, 3 from each of olaparib and olaparib and degarelix cohorts, were processed for nuclear isolation and extraction, prior to single-nuclear RNA sequencing. 10x libraries were constructed. Sequencing on NovaSeq 6000. FASTQ files were processed using CellRanger pipeline. Outputs from the CellRanger pipeline were analysed using the Seurat package in R.

  Dataset EGAD50000001280

• Cell type-specific transcriptomics of esophageal adenocarcinoma

  3' mRNA-Seq obtained from distinct isolated cell types (epithelia cells,immune cells, fibroblasts) of endoscopically obtained esophageal adenocarcinoma tissue as well as normal esophageal mucosa. Libraries for RNA-sequencing were prepared using the QuantSeq 3' mRNA-Seq Library Prep Kit FWD for Illumina according to the low input protocol. Libraries were sequenced on a HiSeq 4000 (Illumina) by 1x 50 bases.

  Dataset EGAD00001005508

• Haukeland University Hospital Data Access Committee for ParkOme-1 datasets archvied in Federated EGA Norway

  Data Access Committee appointed by Haukeland University Hospital for omics datasets for Parkinson's disease and related disorders, generated in studies under the ParkOme project. Omics datasets of different types are generated from fresh frozen brain tissue from individuals with neurodegenerative parkinsonisms and neurologically healthy controls.

  Dac EGAC50000000193

• GIS-LUNGTCR1-2016_WES-FASTQ

  This dataset contains FASTQ files for multi-region exome-sequencing of EGFR-mutant lung adenocarcinomas from Asian patient. There are 16 patients and 95 samples in total, including 16 controls and 79 tumors. Multiple runs for each sample, and 368 fastq in total. Please refer to the sample-ID from filename for merging.

  Dataset EGAD00001001978

• Whole genome sequencing of osteosarcoma and blood

  We profiled 2 patient osteosarcoma tumor samples as well as the blood of the same patients by whole genome sequencing, for a total of 4 samples. The raw fastqs are provided.

  Dataset EGAD00001011372

• Understanding the development of resident memory T cells (Trm) in the human small intestine using integrative multiomic approaches: Paediatric RNA (2026-01-15)

  This study involves atlasing the development of the postnatal gut nervous system in order to elucidate the pathogenic mechanisms of Hirschsprung disease. . This dataset contains all the data available for this study on 2026-01-15.

  Dataset EGAD00001015797

• Understanding the development of resident memory T cells (Trm) in the human small intestine using integrative multiomic approaches: Paediatric Spatial (2025-07-31)

  This study involves atlasing the development of the postnatal gut nervous system in order to elucidate the pathogenic mechanisms of Hirschsprung disease. . This dataset contains all the data available for this study on 2025-07-31.

  Dataset EGAD00001015665

• Paediatric glioma cell line WGS

  Whole genome sequencing of 5 paediatric glioma cells lines - KNS42, SF188, UW479, RES186 and RES259. Illumina paired end sequencing is provided as 5 BAM files aligned to hg19 with bwa.

  Dataset EGAD00001004123

• Genome Sequencing of Large, Multigenerational CEPH/Utah Families

  Blood-derived DNA samples were collected from 603 members of large, multigenerational families, collected as part of the Centre d'Etude du Polymorphisme Humain (CEPH) consortium. These DNA samples were sequenced (using Illumina HiSeq technology) to a median genome-wide depth of 30X. Sequenced reads from each individual were aligned to the human reference genome (hg19), generating CRAM files for each individual. Variant calls in VCF format were obtained using the Genome Analysis Toolkit (GATK).

  Study phs001872

• Multi-omics analysis reveals immune programs delineating disease severity in extrapulmonary tuberculosis

  This study investigates the immune response in extrapulmonary tuberculosis (EPTB) using a combination of bulk and single-cell RNA sequencing. Hierarchical clustering of patient transcriptomes identified three distinct levels of disease severity, uncovering immunological pathways involved in disease progression, including interferon and IL-1β-mediated signaling. The findings also led to the development of a diagnostic gene expression signature for both EPTB and pulmonary TB, offering potential improvements in TB diagnosis and treatment.

  Study EGAS50000000668

• Multi-omics analysis reveals immune programs delineating disease severity in extrapulmonary tuberculosis

  This study investigates the immune response in extrapulmonary tuberculosis (EPTB) using single-cell RNA sequencing. Hierarchical clustering of patient transcriptomes identified three distinct levels of disease severity, uncovering immunological pathways involved in disease progression, including interferon and IL-1β-mediated signaling. The findings also led to the development of a diagnostic gene expression signature for both EPTB and pulmonary TB, offering potential improvements in TB diagnosis and treatment.

  Study EGAS50000000758

• MutWP5__CRUK_Mutographs_of_Cancer__Breast__BRCA_Carriers__Exome_

  Sequencing of LCM-derived microbiopsies from 20 women who underwent risk-reducing reduction mastectomies due to germline BRCA1/2. Goal to assess the mutational burden, spectrum, and clonal dynamics within the tissue. Exome data will be used as a driver and clonality screen, highly clonal or driver-containing samples will subsequently be sent for whole-genome sequencing. Results from this portion of the study will be compared to women who had cosmetic breast reduction surgeries and those with cancer.

  Study EGAS00001003316

• MutWP5__CRUK_Mutographs_of_Cancer__Breast__BRCA_Carriers__Targeted_

  Sequencing of LCM-derived microbiopsies from 20 women who underwent risk-reducing reduction mastectomies due to germline BRCA1/2. Goal to assess the mutational burden, spectrum, and clonal dynamics within the tissue. Targeted data will be used as a driver and clonality screen, highly clonal or driver-containing samples will subsequently be sent for whole-genome sequencing. Results from this portion of the study will be compared to women who had cosmetic breast reduction surgeries and those with cancer.

  Study EGAS00001003315

• MutWP5__CRUK_Mutographs_of_Cancer__Breast__Cancer_Mastectomy__Targeted_

  Sequencing of LCM-derived microbiopsies from 30 women who mastectomies due to Breast Cancer. Goal to assess the mutational burden, spectrum, and clonal dynamics within the tissue. Targeted data will be used as a driver and clonality screen, highly clonal or driver-containing samples will subsequently be sent for whole-genome sequencing. Results from this portion of the study will be compared to women who had cosmetic breast reduction surgeries and those with germline BRCA 1/2 mutations.

  Study EGAS00001003318

• Colorectal_Adenoma_Gene_Screen

  A pilot to establish the feasability of using a custom Agilent targeted pulldown of 110 genes implicated in colorectal tumourigensis to sequence for driver mutations in a set of 30 FFPE colorectal adenomas. If successful, we propose to sequence an additional 350 adenomas as part of a MRC research study in order to define the pattern of driver mutations across the spectrum of pathological subtypes including coventional adenomas, serrated adenomas and hyperplastic polyps

  Study EGAS00001001261

• MDS primary and xenografted samples treated with LOXL inhibitor

  This dataset contains bam files mapped to hg19 (exome and panel) or hg38 (RNA) that either were primary bone marrow cells or sorted human cells after long term engraftment in NSG mice treated with LOXL inhibitor

  Dataset EGAD00001008695

• The preterm infant microbiome: biological, behavioral and health outcomes at 2 and 4 years of age

  This project follows a cohort of 78 Very Low Birth Weight (VLBW) previously enrolled infants in a R21 grant plus additional 25 infants through their Neonatal Intensive Care Unit (NICU) stay until they reach the age of 4 years. The data, gathered over 6 weeks of the NICU stay, includes multiple factors, such as prenatal and postnatal events and illnesses, received human milk amount, weekly means of cytokines, chemokines, growth factors, and secretory Immunoglobulin A in the milk, and weekly levels of fecal calprotectin. These factors could potentially alter the gut microbiome. Microbiome species and diversities will be measured in the laboratory of Dr. Jack Gilbert at Argonne National Laboratory using state of the science deep sequencing and amplification of microbial sRNA genes. The microbiome will again be measured in stool samples from those children at the ages of 2 and 4 years. Relationship between the prenatal and postnatal factors, human milk volume and immunobiology, fecal calprotectin levels, and the very early microbiome will be analyzed. The predictive power of the VLBW infant gut microbiome for determining later childhood microbiomes will be analyzed prospectively. The relationships between microbiomes across time and later growth, development and health will be determined. VLBW infants are at risk for both early and later health effects, and the role of the microbiome in these effects will be measured in this prospective study.

  Study phs001578

• Single-Cell DNA Methylation Profiling with sciMETv2

  In this study we developed a high-throughput single-cell DNA methylation analysis technology, sciMETv2. This technique is rapid, cost-effective, and robust, enabling large-scale single-cell methylome dataset generation. We demonstrate this technology on human middle frontal gyrus, where we identified major cell types. We additionally performed target enrichment using sciMET-cap to enable a reduction in sequencing costs per cell while achieving comparable cell type identification.

  Study phs003091

• RNA-seq data in hMPC, MSC_Pat and EWIma

  Ewing sarcoma is characterized by pathognomonic translocations fusing most frequently EWSR1 with FLI1 (EF1). In addition, Ewing sarcoma can also display alterations in STAG2, TP53 and CDKN2A (SPC). Starting from Ewing sarcoma derived human mesenchymal stem cells (MSCpat), we recapitulated this translocation and SPC alterations using a CRISPR/cas9 approach and generated a bona fide Ewing sarcoma model (EWIma1) displaying transcriptomic and epigenetic hallmarks of EwS.

  Study EGAS50000001173

• ChIP-seq data in MSC_Pat and EWIma1 (FLI1 & H3K27ac)

  Ewing sarcoma is characterized by pathognomonic translocations fusing most frequently EWSR1 with FLI1 (EF1). In addition, Ewing sarcoma can also display alterations in STAG2, TP53 and CDKN2A (SPC). Starting from Ewing sarcoma derived human mesenchymal stem cells (MSCpat), we recapitulated this translocation and SPC alterations using a CRISPR/cas9 approach and generated a bona fide Ewing sarcoma model (EWIma1) displaying transcriptomic and epigenetic hallmarks of EwS.

  Study EGAS50000001172

• Detecting and tracking circulating tumour DNA copy number profiles during first line chemotherapy in oesophagogastric adenocarcinoma

  DNA somatic copy number aberrations (SCNAs) are key drivers in oesophago-gastric adenocarcinoma (OGA). Whether minimally invasive SCNA analysis of circulating tumour (ct)DNA can predict treatment outcomes and reveal how SCNAs evolve during chemotherapy is unknown. We investigated this by low-coverage whole genome sequencing (lcWGS) of ctDNA from 30 patients with advanced OGA prior to first-line chemotherapy and on progression.

  Study EGAS00001003695

• Single Cell Targeted Sequence Capture

  This study is to ascertain whether it is feasible to extract single cell from a tumour, perform amplification, generate a library and sequence a targeted pulldown.

  Dataset EGAD00001001450

• Somatic mutation and selection at epidemiological scale - TwinsUK_TargetedEMSeq_Buccal

  Development of a targeted methylation assay to determine the cell-type composition of a sample. As we age, many tissues become colonised by microscopic clones carrying somatic driver mutations. Some of these clones represent a first step towards cancer whereas others may contribute to ageing and other diseases. However, our understanding of the clonal landscapes of human tissues, and their impact on cancer risk, ageing and disease, remains limited due to the challenge of detecting somatic mutations present in small numbers of cells. Here, we introduce a new version of nanorate sequencing (NanoSeq), a duplex sequencing method with error rates of less than 5 per billion base pairs, which is compatible with whole-exome and targeted gene sequencing. Deep sequencing of polyclonal samples with single-molecule sensitivity enables the simultaneous detection of mutations in large numbers of clones, yielding accurate somatic mutation rates, mutational signatures and driver mutation frequencies in any tissue. Applying targeted NanoSeq to 1,042 non-invasive samples of oral epithelium and 371 samples of blood from a twin cohort, we found an unprecedentedly rich landscape of selection, with 46 genes under positive selection driving clonal expansions in the oral epithelium, over 62,000 driver mutations, and evidence of negative selection in some genes. The high number of positively selected mutations in multiple genes provides high-resolution maps of selection across coding and non-coding sites, a form of in vivo saturation mutagenesis. Multivariate regression models enable mutational epidemiology studies on how carcinogenic exposures and cancer risk factors, such as age, tobacco or alcohol, alter the acquisition and selection of somatic mutations. Accurate single-molecule sequencing has the potential to unveil the polyclonal landscape of any tissue, providing a powerful tool to study early carcinogenesis, cancer prevention and the role of somatic mutations in ageing and disease.

  Dataset EGAD00001015622

• Somatic mutation and selection at epidemiological scale - TwinsUK_TargetedEMSeq_Blood

  Development of a targeted methylation assay to determine the cell-type composition of a sample. As we age, many tissues become colonised by microscopic clones carrying somatic driver mutations. Some of these clones represent a first step towards cancer whereas others may contribute to ageing and other diseases. However, our understanding of the clonal landscapes of human tissues, and their impact on cancer risk, ageing and disease, remains limited due to the challenge of detecting somatic mutations present in small numbers of cells. Here, we introduce a new version of nanorate sequencing (NanoSeq), a duplex sequencing method with error rates of less than 5 per billion base pairs, which is compatible with whole-exome and targeted gene sequencing. Deep sequencing of polyclonal samples with single-molecule sensitivity enables the simultaneous detection of mutations in large numbers of clones, yielding accurate somatic mutation rates, mutational signatures and driver mutation frequencies in any tissue. Applying targeted NanoSeq to 1,042 non-invasive samples of oral epithelium and 371 samples of blood from a twin cohort, we found an unprecedentedly rich landscape of selection, with 46 genes under positive selection driving clonal expansions in the oral epithelium, over 62,000 driver mutations, and evidence of negative selection in some genes. The high number of positively selected mutations in multiple genes provides high-resolution maps of selection across coding and non-coding sites, a form of in vivo saturation mutagenesis. Multivariate regression models enable mutational epidemiology studies on how carcinogenic exposures and cancer risk factors, such as age, tobacco or alcohol, alter the acquisition and selection of somatic mutations. Accurate single-molecule sequencing has the potential to unveil the polyclonal landscape of any tissue, providing a powerful tool to study early carcinogenesis, cancer prevention and the role of somatic mutations in ageing and disease.

  Dataset EGAD00001015623

• Cancer Genomics, ICR, cell line data

  DAC for cell line (non patient) data from the Cancer Genomics group, Division of Genetics and Epidemiology at the Institute of Cancer Research, Sutton, UK.

  Dac EGAC50000000023

• Michigan-Georgetown Cancer DAC

  Genomics data from cancers and/or dysplasias for the collaborations between Maureen Sartor and Nisha D'Silva at the University of Michigan and Laura Rozek at Georgetown University

  Dac EGAC50000000397

• Gencode_741K

  The individuals were genotyped for the Illumina Human Omni Express Bead Chip (OmniExpress), containing 741,000 SNPs. 22 samples were excluded with more than 10% missing genotypes

  Dataset EGAD00010001640

• Imputation analysis file

  This data set includes the following summary level data file used for the imputation data: imputation.sv.assoc.txt: results from single variant association analysis in imputed samples

  Dataset EGAD00010001184

• Brain mets external validation cohort targeted panel sequencing raw sequencing files

  Raw sequencing files for the 18 (brain tumour-only) samples within the external validation cohort.

  Dataset EGAD00001005984

• 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.

  Dataset EGAD00001000847

• Somatic pseudogenes acquired during cancer development – Whole Exome sequencing

  Insertion of processed pseudogenes is known to occur in the germline but has not previously been observed in somatic cells. Formation of pseudogenes could represent a new class of mutation in cancers and a new source of potential driver events.

  Dataset EGAD00001000637

• Somatic pseudogenes acquired during cancer development – Whole Genome sequencing

  Insertion of processed pseudogenes is known to occur in the germline but has not previously been observed in somatic cells. Formation of pseudogenes could represent a new class of mutation in cancers and a new source of potential driver events.

  Dataset EGAD00001000638