23014 results for "ega"

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• MB_COMICS_Methylome

  Medulloblastoma (MB) is the most common malignant brain tumor in children. It is a neuroectodermal tumor located in the cerebellum. International consensus recognizes four distinct subgroups of MBs including Wingless (WNT), Sonic Hedgehog (SHH), Group 3 (G3), and Group 4 (G4) with distinct molecular characteristics, prognoses, and mortality rates in patients. Here, we have compiled and evaluated a large international MB cohort for which we generated methylome data for 369 primary MB patient samples.

  Dataset EGAD00010002669

• single cell RNA-seq data of 10 small cell lung cancer patients

  This dataset contains 10 paired fastq files sequenced on Illumina NextSeq 550 sequencer. Tumors were rapidly dissociated after the surgical procedure using the Miltenyi Biotec Human Tumor Dissociation kit (cat# 130-095-929). Libraries were constructed using the VDJ NextGEM v1.1 10x Genomics Chromium kit. Single cell RNA-seq analysis was performed using Seurat R package.

  Dataset EGAD50000002034

• Targeted sequencing data of cfDNA, archival tissue, and WBC from 208 patients with mUC

  Targeted tissue (n=81), cfDNA (n=319), and WBC (n=208) Illumina sequencing of metastatic urothelial carcinoma patients. All cfDNA is collected in the metastatic setting, while archival tissue is from across the disease course. White blood cell (WBC) samples are used as patient matched germline samples. All files are in paired-end fastq format.

  Dataset EGAD50000002089

• WGS data of paediatric BCR::ABL1 acute lymphoblastic leukemia

  The dataset includes FASTQ and CRAM files from diagnostic and matched remission (control) samples of one BCR::ABL1 ALL patient (ALLT-399). Sequencing library was made using PCR free-based WGS library preparation (PCR-), using Novogene NGS DNA Library Prep Set Kit (Cat No. PT004). Both diagnostic (90x) and remission (30x) samples were sequenced using NovaSeqX Plus.

  Dataset EGAD50000002185

• Batch-corrected read-count matrix of the RNAseq Datasets of CLUSTER JIA pre-MTX cohort

  Samples were sequenced with NovaSeq6000 and the sequencing files were processed using the RSSnextflow workflow (https://gitlab.com/b8307038/rssnextflow). The raw read counts from all batches were combined. Analysis-ready batch-corrected read counts were generated using ComBat-seq.

  Dataset EGAD50000002169

• WGS data of paediatric B-other B cell acute lymphoblastic leukemia (set5)

  The dataset includes FASTQ and BAM/CRAM files from diagnostic and matched remission (control) samples of two B-other ALL patients (ALLT-396, ALLK-131). Sequencing library was made using PCR free-based WGS library preparation (PCR-), using Novogene NGS DNA Library Prep Set. Both diagnostic (90x) and remission (30x) samples were sequenced using NovaSeqX Plus.

  Dataset EGAD50000002160

• CIAO Clinical Trial

  Whole exome and RNA sequencing for samples from CIAO (Checkpoint Inhibitors Assessment in Oropharynx cancer) (NCT03144778) clinical trial testing neoadjuvant anti-PD-L1 durvalumab with or without the anti-CTLA-4 tremelimumab in oropharynx cancer

  Study EGAS50000001174

• The dataset of Detection and characterization of lung cancer using cell-free DNA fragmentomes on NovaSeq 6000 at 1-2x coverage

  The dataset contains 364 CRAM files from whole-genome next-generation sequencing on the Illumina NovaSeq 6000 at 1- 2x coverage. These are plasma samples from healthy individuals and patients with cancer.

  Dataset EGAD50000001961

• Using Exome-sequencing to characterize the resistance to lirafugratinib

  We characterized resistance to lirafugratinib with whole exome sequencing in patients with FGFR2-driven cancers, treated in the phase 1/2 ReFocus trial (NCT04526106) and enrolled in the UNLOCK program at Gustave Roussy

  Study EGAS50000001371

• WGS data of paediatric ETV6::RUNX1 B cell acute lymphoblastic leukemia (set2)

  The dataset includes FASTQ and CRAM files from second relapse and matched remission (control) samples of one ETV6::RUNX1 ALL patient (ALLK-104). Sequencing libraries were made using using NEBNext® Ultra™ II DNA Library Prep Kit (Cat No. E7645). Both second relapse (90x) and remission (30x) samples were sequenced using Illumina NovaSeq 6000.

  Dataset EGAD50000002286

• GATA1 scD&D-seq integrated with Multiome

  Ex vivo differentiation experiments were performed using human CD34+ hematopoietic stem and progenitor cells along the erythropoietic trajectory at multiple timepoints (differentiation days 0, 5, 8, 18, and 24). Simultaneous profiling of transcriptome, chromatin accessibility, and GATA1 binding were performed by integrating D&D-seq with 10X Multiome.

  Dataset EGAD50000002299

• TenK10K Phase 1: scRNA-seq AnnData objects

  Single cell RNA-sequencing data for PBMCs from the Tenk10k Phase 1 cohort (1925 individuals post-QC). Libraries were prepared using the 10x Genomics 3’ Chromium Next GEM Single Cell HT V3.1 kit and sequenced on the NovaSeq 6000 platform. Reads were mapped to the GRCh38 reference genome with Cellranger, and count matrices were preprocessed using Scanpy.

  Dataset EGAD50000002379

• Exome sequencing data for the DIRECT study.

  This dataset contains all available fastq files for gemline, baseline plasma/biopsy, and response assessment patient samples for the DIRECT study. The total number of samples was 729 (188 germline, 190 baseline plasma, 159 baseline biopsy, and 192 response assessment). The dataset files were generated from targeted (exome) Illumina sequencing performed on paired biopsy tissue and plasma cell free DNA.

  Dataset EGAD50000001409

• Diverse Cellular Composition in Alveolar Rhabdomyosarcoma Revealed by Single Cell RNA Sequencing

  Using single cell RNAseq data to characterize tumor composition and cellular states for Alveolar Rhabdomyosarcoma. We find that that ARMS tumors harbor phenotypically and transcriptionally distinct malignant subpopulations within an immune-influenced microenvironment.

  Study EGAS50000001564

• WGS data of paediatric hyperdiploid B cell acute lymphoblastic leukemia (set2)

  The dataset includes FASTQ and BAM files from diagnostic and matched remission (control) samples of two hyperdiploid ALL patients (ALLT-315, ALLT-320). Sequencing libraries were made using PCR free-based WGS library preparation (PCR-), using TruSeq DNA PCRfree library preparation kit v1. Both diagnostic (60x) and remission (30x) samples were sequenced using Illumina HiSeq X.

  Dataset EGAD50000002426

• Whole exome sequencing variant data for Mendelian disorders cohort

  This dataset contains whole exome sequencing variant data (VCF files) from individuals with suspected Mendelian disorders, including sickle cell disease, muscular dystrophy, haemophilia, and Fanconi anemia. Variant calling was performed using the Illumina DRAGEN pipeline, with downstream variant prioritisation conducted using the Zi-Mendelian bioinformatics pipeline. The dataset supports research into rare genetic diseases and genomic variation in African populations.

  Dataset EGAD50000002453

• Biomodal duet +modC sequencing of endometrial cancer plasma cfDNA samples

  This dataset contains biomodal sequencing data generated using the duet + modC assay from plasma-derived cell-free DNA of endometrial cancer patients and healthy donors. Sequencing was performed on an Illumina NovaSeq 6000. Dataset includes raw sequencing FASTQ files. Duet +modC output enables whole-genome profiling of both genetic variation and DNA methylation.

  Dataset EGAD50000002261

• TruSight Oncology 500 ctDNA targeted sequencing data from endometrial cancer patients

  This dataset contains targeted sequencing data generated using the TruSight Oncology 500 ctDNA v2 assay from plasma-derived cell-free DNA of dMMR endometrial cancer patients, at baseline and C3D1 of immunotherapy. Sequencing was performed on Illumina NovaSeq600. Dataset includes aligned sequencing files in BAM format generated using the DRAGEN TruSight Oncology 500 ctDNA v2.6.0 analysis pipeline.

  Dataset EGAD50000002262

• Whole genome sequencing data of high-grade serous ovarian cancer samples (set 17)

  The dataset contains whole genome sequencing data of 26 high-grade serous carcinoma (HGSC) patients sequenced with Novoseq 6000. The 86 samples are either fresh frozen tumour samples or blood samples. The files provided are paired fastq files.

  Dataset EGAD50000002409

• A_study_of_the_molecular_pathogenesis_of_Splenic_Marginal_Zone_and_Diffuse_Large_B_Cell_Lymphoma

  We will perform exome sequencing on selected cases of splenic marginal zone lymphoma (SMZL) and diffuse large B-cell lymphoma (DLBCL) in order to characterise their genetic makeup and identify biomarkers for prognosis and prediction of treatment response.

  Study EGAS00001000335

• TCELL_PILOT_ATAC_SEQ

  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 EGAS00001000758

• Lymphocyte_RNA_profiling

  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 EGAS00001000564

• Whole exome sequencing of papillary thyroid carcinoma in the Chinese population

  Papillary thyroid carcinoma (PTC) is the most common type of thyroid cancer. Here we submitted the sequencing results for PTC using 91 tumor-normal pairs through exome sequencing in the Chinese Han population.

  Study EGAS00001001268

• Single Cell RNAseq of blood and tumor from renal cancer patients

  Single-cell RNASeq (scRNAseq) showed that IL8 is primarily expressed in circulating and intratumoral myeloid cells and high IL8 expression was associated with the downregulation of the antigen presentation machinery in myeloid cells.

  Study EGAS00001004230

• Breast_Cancer_Matched_Pair_Cell_Line_Whole_Genomes

  We propose to definitively characterise the somatic genetics of matched pair breast cancer cell lines through generation of comprehensive catalogues of somatic mutations by high coverage genome sequencing coupled with integrated transcriptomic and methylation analyses.

  Study EGAS00001000166