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• fibroblast RNAseq from a GINS3 patient and two parents

  RNA-seq was performed from 3 separate GINS3 patient fibroblast cultures and 1 replicate of fibroblasts derived from each of the two parents. RNA-seq libraries were generated with NEBNext Ultra II Directional RNA library prep for Illumina with NEBNext Poly(A) mRNA Magnetic Isolation Module (New England Biolabs) and sequenced on Illumina NextSeq500 with paired-end 150 bp read length. SIRV Set 3 (Lexogen) spike-ins were added. Two fastq files are provided for each RNAseq sample.

  Dataset EGAD00001008571

• WCDT Hi-C assays performed mCRPC biopsies

  Paired FASTQ files from a Hi-C assay performed on mCRPC tumors. Sequencing was performed using 150nt paired reads generated by a Novaseq 6000 instrument.

  Dataset EGAD00001009408

• RNAseq of primary mesothelioma cell lines

  Mesothelioma is an aggressive cancer associated with previous exposure to asbestos and dismal prognosis. Since a pemetrexed/cisplatin combination was introduced for treatment of mesothelioma, no new first- or second-line therapies have been discovered. Thus, to better understand what drives mesothelioma carcinogenesis and to identify potential targets for therapy, in this project we aim at performing RNAseq analysis of a panel of mesothelioma cells lines.

  Dataset EGAD00001009642

• pan-cancer plasma cfRNA

  Dataset contains mRNA capture sequencing data from plasma of 266 different human donors. The first, pan-cancer, cohort covers 25 high-grade to metastatic cancer types (8 cancer patients per type) and a control group (8 healthy donors). The validation cohort comprises additional plasma samples from ovarian, prostate and uterine cancer patients (12 per type) as well as additional samples from controls (22 new and 8 repeated). Samples were sequenced on a NovaSeq 6000 and are provided in FASTQ format.

  Dataset EGAD00001009713

• Combined Telomerase Vaccination and Pembrolizumab in Advanced Melanoma: WES and RNA sequencing of biopsies from a Phase I Trial

  This dataset contains whole-exome and RNA sequencing of biopsies obtained from patients enrolled in a phase I clinical trial investigating the UV1 vaccine in combination with pembrolizumab in patients with advanced melanoma.

  Dataset EGAD00001011074

• limbal stem cells from Aniridia patients

  Limbal stem cells obtained during penetrating keratoplasty from aniridia patients with congenital aniridia (Lagali Stage 4), limbal tissue was digested in collagenase A solution (4 mg/ml) in keratinocyte serum-free medium (KSFM) (Thermo Fisher Scientific; Waltham, MA) for 20 h at 37 °C. Cell suspensions were filtered through a use of Flowmi® micro strainer (SP Bel-Art; Wayne, NJ). LSC clusters were dissociated with trypsin-EDTA (0.05%) solution and cultivated in KSFM. Medium was refreshed every other day. Subconfluent (80–90%) limbal epithelial cells were harvested at passage 2

  Dataset EGAD00001011124

• Genome and transcriptome sequence data from a malignant rhabdoid tumor tumor patient

  Genome and transcriptome sequence data from a malignant rhabdoid tumor patient, generated as part of the BC Cancer Agency's Pediatric Personalized Onco-Genomics study

  Dataset EGAD00001015323

• Genome and transcriptome sequence data from a embryonal rhabdomyosarcoma tumor patient

  Genome and transcriptome sequence data from a embryonal rhabdomyosarcoma patient, generated as part of the BC Cancer Agency's Pediatric Personalized Onco-Genomics study

  Dataset EGAD00001015324

• Genome and transcriptome sequence data from a NUT midline carcinoma tumor patient

  Genome and transcriptome sequence data from a NUT midline carcinoma patient, generated as part of the BC Cancer Agency's Pediatric Personalized Onco-Genomics study

  Dataset EGAD00001015325

• Genome and transcriptome sequence data from a alveolar rhabdomyosarcoma tumor patient

  Genome and transcriptome sequence data from a alveolar rhabdomyosarcoma patient, generated as part of the BC Cancer Agency's Pediatric Personalized Onco-Genomics study

  Dataset EGAD00001015329

• Genome and transcriptome sequence data from a embryonal rhabdomyosarcoma tumor patient

  Genome and transcriptome sequence data from a embryonal rhabdomyosarcoma patient, generated as part of the BC Cancer Agency's Pediatric Personalized Onco-Genomics study

  Dataset EGAD00001015330

• Genome and transcriptome sequence data from a acute myeloid leukemia tumor patient

  Genome and transcriptome sequence data from a acute myeloid leukemia patient, generated as part of the BC Cancer Agency's Pediatric Personalized Onco-Genomics study

  Dataset EGAD00001015331

• Genome and transcriptome sequence data from a osteosarcoma tumor patient

  Genome and transcriptome sequence data from a osteosarcoma patient, generated as part of the BC Cancer Agency's Pediatric Personalized Onco-Genomics study

  Dataset EGAD00001015332

• Genome and transcriptome sequence data from a pIlomyxoid astrocytoma tumor patient

  Genome and transcriptome sequence data from a pIlomyxoid astrocytoma patient, generated as part of the BC Cancer Agency's Pediatric Personalized Onco-Genomics study

  Dataset EGAD00001015333

• Genome and transcriptome sequence data from a wilms tumor tumor patient

  Genome and transcriptome sequence data from a wilms tumor patient, generated as part of the BC Cancer Agency's Pediatric Personalized Onco-Genomics study

  Dataset EGAD00001015334

• Genome and transcriptome sequence data from a rhabdomyosarcoma, alveolar tumor patient

  Genome and transcriptome sequence data from a rhabdomyosarcoma, alveolar patient, generated as part of the BC Cancer Agency's Pediatric Personalized Onco-Genomics study

  Dataset EGAD00001015335

• Genome and transcriptome sequence data from a neuroblastoma tumor patient

  Genome and transcriptome sequence data from a neuroblastoma patient, generated as part of the BC Cancer Agency's Pediatric Personalized Onco-Genomics study

  Dataset EGAD00001015337

• Genome and transcriptome sequence data from a osteosarcoma tumor patient

  Genome and transcriptome sequence data from a osteosarcoma patient, generated as part of the BC Cancer Agency's Pediatric Personalized Onco-Genomics study

  Dataset EGAD00001015338

• ICU transcriptomics: Assessing the role of the host immune response in patients with ventilator-associated pneumonia

  This is a study of 100 patients with the aim to provide transcriptomic sequencing data analysis of cells isolated from bronchioalveolar lavage and blood samples from critically ill patients with pneumonia on an intensive care unit in order to investigate the host contribution to disease. 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/

  Dataset EGAD00001015407

• RNAseq of human breast cancer tumors from the PEARL study

  Formalin fixed, paraffin-embedded human breast cancer tumor samples had RNA extracted using the Thermo Scientific KingFisher Flex instrument and the Applied Biosystems MagMAX FFPE DNA/RNA Ultra Kit; Total RNA libraries were created using the Bravo Automated Liquid-Handling Platform and the TruSeq Stranded Total RNA Library Prep Gold Kit; libraries were sequenced on the Illumina NovaSeq 6000 machine using a 2x50 bp paired-end configuration to target a read depth of 120 million clusters per library.

  Dataset EGAD00001015613

• Multi-omics Profiling of Airway Neutrophils and Microbiome in Stable Bronchiectasis

  This dataset comprises raw sequencing data generated from a multi-omics study investigating airway neutrophils and the microbiome in patients with stable bronchiectasis. Samples consist of multiplexed pools derived from blood and sputum collected from multiple subjects. Each pool represents a combination of biological materials from different individuals, and therefore individual-level metadata such as sex and disease stage are not attributable at the sample level. The dataset aims to characterize immune and microbial profiles associated with chronic airway inflammation in bronchiectasis.

  Dataset EGAD50000002607

• A Heterozygous Missense Mutation in the Coiled-Coil Domain of STAT5B is Associated with Leukocytosis, Lymphadenopathy, Splenomegaly, Necrotizing Granulomas, Hyper-IgM and Thrombocytopenia

  We describe one patient with a heterozygous missense mutation in the coiled-coil domain of STAT5B. This patient presented with leukocytosis, lymphadenopathy, splenomegaly, necrotizing granulomas, hyper-IgM and autoimmune thrombocytopenia. Mutant STAT5B protein was shown to dominantly-interfere with IL2-induced transcriptional activity resulting in global downregulation of STAT5-regulated genes in patient T cells. The patient exhibited an increase in CD4+ T effector memory cells in the peripheral blood and these cells were resistant to restimulation-induced cell death in vitro.

  Study phs001479

• A Genome-Wide Association Study for Post-bronchodilator Lung Function in Children with Asthma

  In this study, we conducted a genome-wide association study (GWAS) of post-bronchodilator (BD) FEV1 (forced expiratory volume in 1 second) and FEV1/FVC (forced vital capacity) in Puerto Rican children with asthma. From September 2003 to June 2010, we recruited 618 Puerto Rican children with asthma, which was defined as physician diagnosed asthma and at least one episode of wheezing in the previous year. The recruited children include 267 from public schools in Hartford, Connecticut and 351 from randomly selected households in San Juan, Puerto Rico.

  Study phs001216

• A New CA19-9 Cut-Off Value Identifies Lewis Antigen Status and Refines Prognostic Stratification in PDAC

  This study investigates the clinical utility of serum CA19-9 levels in pancreatic ductal adenocarcinoma (PDAC), with a focus on identifying patients with Lewis antigen–negative status due to germline FUT3 variants. Using data from multicenter prospective cohorts in Taiwan, we analyzed CA19-9 classification, FUT2/FUT3 genotypes, and clinicopathological annotations. The goal of this study is to refine prognostic stratification and reduce false-negative interpretation of CA19-9 in PDAC patients. All participants provided informed consent, and the study was approved by the relevant institutional review boards.

  Study EGAS50000001575

• The DIRECT study: A roadmap for ctDNA-based risk prediction, molecular profiling and MRD detection in Diffuse Large B Cell Lymphoma

  DIRECT was a prospective, multisite study assessing the feasibility and utility of circulating tumor DNA (ctDNA) in 188 patients with aggressive B-cell non-Hodgkin lymphoma using capture panel sequencing and an open-source computational pipeline. The aims of the study were 1)baseline risk stratification, 2)genetic profiling and 3)ultrasensitive minimal residual disease (MRD) assessment. This study highlighted the considerable potential, but also the caveats and limitations, of ctDNA technology when applied to aggressive B-cell lymphoma.

  Study EGAS50000000968