16758 results for "sec+and+unspecified+malignant+neoplasm"

in 59.03 milliseconds.

• Garvan/St Vincent’s Prostate Cancer Tissue and Data

  The cohort (n=53) consists of prostate cancer patients from Australia. For each patient, a pair of blood and tumour samples were collected. The sequencing data was mapped to hg38 reference. Blood BAMs are named with “-B” as suffix and tumour BAMs are named with “-T” as suffix.

  Dataset EGAD00001009066

• Roche Alzheimer's dataset

  The Roche Alzheimer’s disease dataset (Roche_AD) consists of 80 samples from 40 unique individuals (one sample from the temporal cortex and one from deep white matter for each individual, 12 cases, 25 controls, 3 dementia). A total of 12,000 estimated cells from each sample were loaded on the 10x Single Cell Next GEM G Chip. cDNA libraries were prepared using the Chromium Single Cell 3’ Library and Gel Bead v3 kit according to the manufacturer’s instructions. cDNA libraries were sequenced using the Illumina NovaSeq 6000 System and NovaSeq 6000 S2 Reagent Kit v1.5 (100 cycles), aiming at a sequencing depth of minimum 30K reads/nucleus.

  Dataset EGAD00001009166

• RNA sequencing of end-stage kidney disease patients with COVID-19

  This dataset contains paired RNA sequencing data for end-stage kidney disease (ESKD) patients on dialysis. There are two cohorts. The first includes 179 samples from 51 COVID-19 patients recruited during the initial phase of the COVID-19 pandemic (April-May 2020) and 55 non-infected ESKD patients as controls. 17 patients initially recruited as controls as part of the Wave 1 cohort were later infected with COVID-19 in January-March 2021. We acquired a total of 90 samples during the acute infection and convalescent samples for 12 of the 17 patients following the acute COVID-19 episode. RNA-seq counts and full clinical metadata for these cohorts are available without restriction from Zenodo (https://doi.org/10.5281/zenodo.6497251).

  Dataset EGAD00001009752

• Tumour evolvability metrics predict recurrence in advanced localised prostate cancer (tumour data)

  There is a need for quantitative measurements of evolutionary metrics in controlled clinical trials with long term follow-up information. This is particularly true in advanced localised prostate cancer, which can recur more than a decade after diagnosis. Here we mapped genomic intra-tumour heterogeneity in 642 tumour samples from 114 patients who took part in the IMRT and DELINEATE clinical trials, for which full clinical information and 12y median follow-up was available. We concomitantly assessed phenotypic (morphological) heterogeneity using Deep Learning in 1,923 histological sections from 250 IMRT patients (fully overlapping with the genetic set). This study shows that combining genomics with AI-aided histopathology in clinical trials leads to novel clinical biomarkers. This EGA repository contains data produced from tumour samples using low coverage whole genome sequencing and a prostate cancer specific gene panel data following compression of unique molecular identifiers.

  Dataset EGAD00001010274

• Tumour evolvability metrics predict recurrence in advanced localised prostate cancer (normal data)

  There is a need for quantitative measurements of evolutionary metrics in controlled clinical trials with long term follow-up information. This is particularly true in advanced localised prostate cancer, which can recur more than a decade after diagnosis. Here we mapped genomic intra-tumour heterogeneity in 642 tumour samples from 114 patients who took part in the IMRT and DELINEATE clinical trials, for which full clinical information and 12y median follow-up was available. We concomitantly assessed phenotypic (morphological) heterogeneity using Deep Learning in 1,923 histological sections from 250 IMRT patients (fully overlapping with the genetic set). This study shows that combining genomics with AI-aided histopathology in clinical trials leads to novel clinical biomarkers. This EGA repository contains data produced from tumour samples using low coverage whole genome sequencing and a prostate cancer specific gene panel data following compression of unique molecular identifiers.

  Dataset EGAD00001010295

• SNF_OLINK_20

  Matrix of normalized values from Olink assay performed on baseline BM Plasma. The Olink Immuno-Oncology multiplex proteomic Panel included 92 proteins associated with human inflammatory conditions. Data is analyzed using real-time PCR analysis software via the Ct method and Normalized Protein Expression (NPX) manager. Data were normalized using internal controls in every single sample, inter-plate controls, negative controls and a correction factor and expressed as Log2 scale, which was proportional to the protein concentration. One NPX difference equals the doubling of the protein concentration.

  Dataset EGAD00001011147

• NOTCH1 fusion genes in pediatric T-cell lymphoblastic lymphoma hallmark a common high-risk subgroup with blood TARC levels as possible biomarker

  T-cell lymphoblastic lymphoma (T-LBL) is a common pediatric malignancy accounting for approximately 20% of the non-Hodgkin lymphomas during childhood. Survival rates of T-LBL are ~80%, but outcome after relapse is dismal, with salvage rates reaching only ~15. Considering the extremely poor prognosis after relapse and absence of clinically relevant high-risk genetics, there is an urgent need for the identification of molecular risk factors and new prognostic biomarkers in T-LBL, as well as identification of new therapeutic strategies. In this study we present a novel entity of high-risk pediatric T-LBL patients characterized by previously unknown NOTCH1 gene fusions and highly elevated blood TARC levels

  Dataset EGAD00001015255

• CCA WGS data (16 CCA with matched normal, 4 cell-line)

  Fastq files for WGS for 16 CCAs (with matched normal tissues), and 4 cell lines in an AA-treatment experiment (0, 10, 20, 40ug AA treatment after 180 days; 2 runs each for 10ug and 40ug experiments). Genomic DNA was extracted using DNeasy Blood and Tissue Kit (Qiagen). Sequencing libraries were prepared from DNA extracted using the SureSelect XT2 Target Enrichment System for the Illumina Multiplexed Sequencing platform (Illumina) according to the manufacturer’s instructions. Whole genome sequencing was performed on Illumina HiSeq4000 sequencer with paired-end sequencing.

  Dataset EGAD00001012100

• RNAseq SCLC Cell lines MYC

  RNAseq data set (Mollaoglu et al., MYC drives progression of small cell lung cancer to a variant neuroendocrine subtype with vulnerability to Aurora kinase inhibition) RNA isolation from primary tumors and healthy lungs was performed using RNeasy Mini Kit (Qiagen) with the standard protocol. RNA was subjected to library construction with the Illumina TruSeq Stranded mRNA Sample Preparation Kit (cat# RS-122-2101, RS-122-2102) according to manufacturer’s protocol. Chemically denatured sequencing libraries (25 pM) are applied to an Illumina HiSeq v4 single read flow cell using an Illumina cBot. Hybridized molecules were clonally amplified and annealed to sequencing primers with reagents from an Illumina HiSeq SR Cluster Kit v4-cBot (GD-401-4001). Following transfer of the flowcell to an Illumina HiSeq 2500 instrument (HCSv2.2.38 and RTA v1.18.61), a 50 cycle single-read sequence run was performed using HiSeq SBS Kit v4 sequencing reagents (FC-401-4002).

  Dataset EGAD00001003099

• BAM files of total RNA-Seq data of POPS control samples (GRCh37)

  Placental biopsies (n = 64 female placentas, n = 67 male placentas) were selected from healthy pregnancies from the POPs cohort. A quality control process was also applied for the RNA-Seq datasets: reads were trimmed with Trim Galore!, which uses cutadapt internally and were mapped to the same version of human genome reference (hg19). TopHat2, a splice-aware mapper built on top of Bowtie2 short-read aligner, was used in the mapping process in which so-called two-pass (or two-scan) alignment protocol was applied to rescue unmapped reads from the initial mapping step. In the second mapping, previously unmapped reads were re-aligned to the exon-intron junctions detected in the first-mapping by TopHat2 and were combined across all 131 placenta samples. The initial and second mapped reads were merged by samtools

  Dataset EGAD00001003462

• Exome sequencing of 142 gastric cancer and matched normal from Japanese cohorts (UT)

  As a contribution to the International Cancer Genome Consortium, exome sequencing of 142 Japanese gastric cancer with various histological subtypes have been conducted. This study aims to identify unique and common driver genes and molecular subtypes in Japanese gastric cancer. Please refer ICGC website for detail: http://icgc.org/icgc/cgp/69/420/1012357

  Dataset EGAD00001004041

• Exome sequencing of 102 gastric cancer and matched normal from Japanese cohorts (YCU)

  As a contribution to the International Cancer Genome Consortium, exome sequencing of 102 Japanese gastric cancer with various histological subtypes have been conducted. This study aims to identify unique and common driver genes and molecular subtypes in Japanese gastric cancer. Please refer ICGC website for detail: http://icgc.org/icgc/cgp/69/420/1012357

  Dataset EGAD00001004042

• A compendium of mutational signatures due to environmental exposures

  Whole-genome-sequencing (WGS) of human tumours has revealed distinct mutation patterns that hint at the causative origins of cancer. We examined mutational-signatures in 324 WGS of human induced pluripotent stem cells (iPSCs) following exposure to known or suspected environmental carcinogens. 79 agents were tested with or without metabolic activation at concentrations that produced measurable cytotoxicity; 41 yielded characteristic substitution mutational signatures. Some exhibit similarity with signatures found in human tumours. Additionally, 6 agents produced double-substitution signatures and 8 produced indel signatures. Investigating mutation asymmetries across genome topography reveals fully functional mismatch and transcription-coupled repair pathways in iPSCs. Primary adducts induced by environmental carcinogens can be resolved by disparate repair/replicative pathways, resulting in an assortment of signature outcomes even for a single mutagen. This compendium of experimentally-induced mutational-signatures permits further exploration of roles of environmental agents in cancer aetiology, and underscores how human stem cell DNA is directly vulnerable to environmental agents.

  Dataset EGAD00001004583

• Best Endovascular vs. Best Surgical Therapy in Patients With Critical Limb Ischemia (BEST CLI-BioLINCC)

  Data Access NOTE Please refer to the “Authorized Access” section below for information about how access to the data from this accession differs from many other dbGaP accessions. Objectives To compare the effectiveness of surgical treatment to the effectiveness of endovascular treatment in adults with chronic limb-threatening ischemia who are eligible for both treatment options. Background Peripheral artery disease (PAD) affects more than 200 million people worldwide. A portion of those individuals develop chronic limb-threatening ischemia (CLTI). CLTI is associated with severe health outcomes. CLTI is defined by ischemic foot pain at rest, ischemic ulcerations, or gangrene. Treatment for CLTI includes revascularization to improve limb perfusion and limit the risk of amputation. However, the choice of surgery or endovascular therapy for revascularization varies greatly. The extent to which this variability affects clinical outcomes in patients with CLTI is unknown. The BEST-CLI trial was initiated to determine whether endovascular revascularization was superior to surgical revascularization in patients with CLTI. Participants A total of 1434 participants with a single segment of great saphenous vein comprised cohort 1. Of these, 718 participants were randomly assigned to the surgical treatment group and 716 participants were randomly assigned to the endovascular therapy group. A total of 396 participants needing an alternative conduit comprised cohort 2. Of these, 197 participants were randomly assigned to the surgical treatment group and 199 participants were randomly assigned to the endovascular therapy group. Design BEST-CLI was an international, randomized, open-label trial. Participants were assigned to one of two cohorts based on the availability of a single segment of great saphenous vein. Participants in both cohorts were randomly assigned to either surgery or endovascular therapy. Follow-up was performed at 30 days after the procedure, 3 months, 6 months, and every 6 months thereafter up to 84 months after randomization. Telephone visits in lieu of clinic visits were planned at 30 months and every 12 months thereafter and at the end of the trial. Participants were followed for major adverse cardiovascular events (myocardial infarction, stroke, or death from any cause), quality of life, level of pain, and performance on the six-minute walk test. The primary outcome was a composite of major adverse limb events or death from any cause. A major adverse limb event was defined as above ankle amputation of the index limb or a major index-limb reintervention (new bypass, interposition graft revision, thrombectomy, or thrombolysis). Conclusions Among patients with CLTI who had an adequate great saphenous vein for surgical revascularization (cohort 1), the incidence of a major adverse limb event or death was significantly lower in the surgical group than in the endovascular group. Among the patients who lacked an adequate saphenous vein conduit (cohort 2), the outcomes in the two groups were similar. Farber A, Menard MT, Conte MS, et al. Surgery or Endovascular Therapy for Chronic Limb-Threatening Ischemia. N Engl J Med. 2022;387(25):2305-2316. PMID 36342173

  Study phs003844

• Inorganic Nitrite Delivery to Improve Exercise Capacity in Heart Failure with Preserved Ejection Fraction (INDIE-HFpEF): Heart Failure Network (HFN INDIE-Imaging)

  Data Access NOTE: Please refer to the "Authorized Access" section below for information about how access to the data from this accession differs from many other dbGaP accessions. Objective: To determine the effect of inhaled, nebulized inorganic nitrite on exercise capacity in patients with heart failure with preserved ejection fraction.Background: Approximately half of patients with heart failure have a preserved ejection fraction (HFpEF). However, there are no proven effective medical treatments for this syndrome. Evidence suggests that impairments in nitric oxide availability have a potentially important role in the pathophysiology of HFpEF.Unlike organic nitrates, inorganic nitrite is converted to nitric oxide in the presence of hypoxia and acidosis, conditions that develop during exercise. Because the cardiac, vascular, and skeletal muscle abnormalities that limit physical capacity and contribute to symptoms in patients with HFpEF characteristically develop during exercise, inorganic nitrite may provide the best way to target nitric oxide delivery precisely at the time of greatest need. The HFN-INDIE trial was initiated to test the hypothesis that compared to placebo, longer-term use of inhaled, nebulized inorganic nitrite would enhance peak exercise capacity in patients with HFpEF. Participants: A total of 105 participants were randomized. 53 were randomized to receive nitrite first and 52 were randomized to receive placebo first.Design: HFN-INDIE was a multicenter, randomized, double-blind, placebo-controlled, crossover study. After enrollment, patients underwent baseline studies to determine eligibility. All patients were required to display objective exercise limitation, evidenced by reduced peak oxygen consumption (V̇o2) on cardiopulmonary exercise testing of less than 75% predicted, with a respiratory exchange ratio indicative of maximal effort (≥1.0). Following qualifying exercise testing, eligible participants received an open-label, single-dose run-in of inhaled, nebulized sodium nitrite (80 mg) to assess tolerability, symptoms, and orthostatic vital signs. Patients developing hypotension (systolic blood pressure The prespecified primary end point was peak V̇o2, measured as the highest 30-second average during upright cycle ergometry, during the 4-week period in which patients were receiving inorganic nitrite as compared with placebo. Accelerometry, health-related quality-of-life scores on the self-administered Kansas City Cardiomyopathy Questionnaire (score range, 0-100, with higher scores indicating better quality of life), echocardiographic indicators of cardiac filling pressures measured at trough drug levels (E/e′ ratio, estimated pulmonary artery systolic pressure, and left atrial volume index; lower scores indicate better health for all), ventilatory efficiency (VE/V̇co2, lower indicating better health), exercise time (higher indicating better health), and NT-proBNP levels (lower indicating better health) were also collected.Data Availability: Data available from this study includes transthoracic echocardiogram images from multiple timepoints. There are 199 echocardiographic exams available, totaling over 13,100 individual echocardiogram images. Conclusions: Among patients with HFpEF, administration of inhaled inorganic nitrite for 4 weeks, compared with placebo, did not result in significant improvement in exercise capacity.Reference: Borlaug et al., 2018, PMID: 30398602.

  Study phs003804

• Sequencing component for the whole genome methylation analysis in PBMCs and cell subset pilot study DAC

  Dac EGAC00001000096

• Department of Pathology and Tumor Biology, Kyoto University Data Access Committee

  Dac EGAC00001000352

• Mutated H3 Histones Drive Human Pre-Leukemic Hematopoietic Stem Cell Expansion And Promote Leukemic Aggressiveness.

  Dac EGAC00001001054

• DAC for study: "Circulating tumour DNA abundance and potential utility in de novo metastatic prostate cancer"

  Dac EGAC00001001099

• Genomic stratification and liquid biopsy in a rare adrenocortical carcinoma (ACC) case, with dual lung metastases

  Dac EGAC00001001138

• Uncovering tumor intrinsic and extrinsic factors that regulate hepatocellular carcinoma growth using patient derived xenograft assays

  Dac EGAC00001001387

• The data access committee for Detection and characterization of lung cancer using cell-free DNA fragmentomes

  Dac EGAC00001002184

• Greek

  Greek Multiple Sclerosis cases and controls

  Dataset EGAD00010002115

• US

  US Multiple Sclerosis cases and controls

  Dataset EGAD00010002116

• Australia

  Australia Multiple Sclerosis cases and controls

  Dataset EGAD00010002117

• Expression profiles and genetic makeup of metastases of a cancer of unknown primary.

  Study EGAS00001004059

• Subgroup-specific gene expression profiles and mixed epistasis in chronic lymphocytic leukemia (HIPO, H005)

  Study EGAS00001006361

• Single cell sequencing: Capturing the origin and dynamics of chromosomal copy-number heterogeneity

  Study EGAS00001003812

• Concurrent germline and somatic pathogenic BAP1 variants in a patient with metastatic bladder cancer

  Study EGAS00001004055

• HNF1A haploinsufficiency causes decreased insulin expression, dysregulation of pancreatic progenitor signature genes and affects chromatin accessibility

  Study EGAS00001006309

• Human gastrointestinal epithelia of the esophagus, stomach and duodenum resolved at single-cell resolution

  Study EGAS00001004695

• Characterization of stromal tumor-infiltrating lymphocytes and genomic alterations in metastatic lobular breast cancer

  Study EGAS00001004641

• An Integrated Approach to Patient Stratification and Therapy Selection in Acute Myeloid Leukemia

  Study EGAS00001004655

• The WID-EC test for the detection and risk prediction of endometrial cancer

  Study EGAS00001005033

• The DNA methylome of cervical cells and risk of ovarian cancer

  Study EGAS00001005045

• Immune infiltrate and tumor microenvironment transcriptional programs stratify pediatric osteosarcoma into prognostic groups at diagnosis

  Study EGAS00001005326

• Evaluating CRISPR-based Prime Editing for cancer modeling and CFTR repair in organoids

  Study EGAS00001005358

• Single Cell Transcriptomics of peripheral immune cells pre- and post-Immune Checkpoint Blockade

  Study EGAS00001005507

• Genomic profiling of metastatic basal cell carcinoma reveals candidate drivers of disease and therapeutic targets

  Study EGAS00001006148

• Neutrophil extracellular traps have auto-catabolic activity and produce mononucleosome-associated circulating DNA

  Study EGAS00001006759

• Mechanism of action and resistance to Trastuzumab Deruxtecan in patients with metastatic breast cancer

  Study EGAS00001007372

• RAGE engagement by SARS-CoV-2 enables monocyte infection and underlies COVID-19 severity

  Study EGAS00001007529

• Low-coverage whole-genome sequencing of cancer and healthy plasma circulating DNA

  Study EGAS00001007593

• DNA_methylation_pancreas

  DNA methylation of PDAC prescursors and normal pancreas cell population

  Dataset EGAD00010002386

• covarites

  covarites phenotypes, including gender (1=Female/0=Male), age and contraceptive

  Dataset EGAD00010002147

• Phenotypes_CaseFamilies

  Phenotypes from case families listed in medical records and used in analyses.

  Dataset EGAD00010002125

• REL-2017-07-2028

  HipSci - Bleeding and Platelet Disorders - Expression Array - July 2017

  Dataset EGAD00010001384

• Pacific_Islands

  Samples from eastern Polynesia, Taiwan, and Vanuatu

  Dataset EGAD00010001933

• Parallel sequencing of extrachromosomal circular DNAs and transcriptomes in single cancer cells

  Study EGAS00001007026

• Accessibility Over Transposable Elements Reveals Genetic Determinants of Stemness Properties in Normal and Leukemic Hematopoiesis

  Study EGAS00001007191

• 20200819_EGA_Qld_Melanoma.biomarkers

  A study looking at Germline and Somatic biomarkers using WES data only

  Dataset EGAD00001006374

• Cell-free DNA sequencing data of healthy control, atrophic gastritis, and gastric cancer patients’ blood

  Study EGAS00001007308

• Peking University BIOPIC Data Access Committee (PUBDAC).The DATA ACCESS AGREEMENT is provided at https://github.com/zhangyybio/single-T-cell-data-access. Applicants can request access to the data by directly downloading it or by sending an email to cancerpku@pku.edu.cn. The process that is used to approve an application includes verifying the institution, participants and research purposes of the application. In general this process will take about two weeks. In principal, any academic research institutions complying with the laws and bioethic regulation policies of China will be approved.

  Dac EGAC00001000551

• The University of Tasmania MS Stem Data Access Committee

  Data access committee for data related to the Multiple Sclerosis Stem (MS Stem) biobank. A biobank of human induced pluripotent stem cell (iPSC) lines. MS Stem is a biobank of human induced pluripotent stem cell (iPSC) lines, derived from people living with and without multiple sclerosis. The biobank provides researchers with fully characterised iPSC lines from well phenotyped and genotyped individuals. This provides a unique opportunity to research the pathophysiology of MS in human cell models or conduct preclinical screening of putative therapeutics.

  Dac EGAC50000000120

• COVID-19 Outpatient Thrombosis Prevention Trial (ACTIV-4B)

  An adaptive randomized double-blind placebo-controlled platform trial to compare the effectiveness of anticoagulation with antiplatelet agents and with placebo to prevent thrombotic events in patients diagnosed with COVID-19 who are not admitted to hospital as COVID-19 related symptoms are currently stable.

  Study phs002710

• Single Cell, Whole Genome Analysis of the Aging Human Cardiomyocytes

  In this study we have sequenced single cardiomyocytes from 12 individuals (ages from 0.4 to 82 yrs.). We have identified and characterized the somatic single-nucleotide variants (sSNVs). Our study indicates that cardiomyocyte sSNVs increased with age with distinctive mutational signatures.

  Study phs002284

• NHLBI TOPMed - NHGRI CCDG: Penn Medicine BioBank Early Onset Atrial Fibrillation Study

  Cases with early-onset atrial fibrillation were selected from the Penn Biobank based on an age of atrial fibrillation onset prior to 61 years of age, and in the absence of a myocardial infarction, heart failure or severe valvular disease.

  Study phs001601

• The molecular basis of inherited reproductive disorders

  The purpose of this study is to discover genetic mutations in patients who have GnRH deficient states. This includes individuals with variant forms of hypogonadotropic hypogonadism, including individuals who have somatic anomalies involving mid-line facial defects, renal agenesis, synkinesia, and ataxia, amongst others.

  Study phs000475

• Etiologic Studies of Macular Degeneration

  This is a genotyping study of selected participants in an ongoing study of macular degeneration and related ocular disorders. DNA samples were obtained from 1985 (study initiation) to 2018. Phenotypes were determined using the validated Clinical Age-Related Maculopathy Grading System (Ophthalmol 2006, PMID 16458093).

  Study phs001896

• Comprehensive molecular profiling with whole-exome sequencing (WES) of PDX tumors

  To identify biomarkers for the antitumor effects of molecularly targeted therapy, we performed whole-exome sequencing on 795 patient-derived xenograft (PDX) samples established from 269 patients with solid tumors and 125 frozen tissue samples obtained at the time of surgery.

  Study JGAS000853

• Target sequencing of 8 hereditary prostate cancer genes in Japanese

  We performed a case control association study for variants in coding regions of 8 hereditary prostate cancer genes in 7,636 male unselected prostate cancer patients, 12,366 male controls of Japanese ancestry. The 8 genes were ATM, BRCA1, BRCA2, BRIP1, CHEK2, HOXB13, NBN, and PALB2.

  Study JGAS000203

• Phase II clinical trial of adult Philadelphia chromosome-negative precursor B-cell acute lymphocytic leukemia with combination chemotherapy

  Adults with B-ALL showed extremely inferior outcomes when compared to children. Genetic basis undelying adult B-ALL is largely unknown. We performed integrated analysis of RNA-seq and target DNA-seq for the patients enrolled in BALL213 study.

  Study JGAS000278

• Comprehensive analysis of the abnormality of the genes in juvenile myelomonocytic leukemia

  To develop a simple and robust methylation test for risk stratification of patients with juvenile myelomonocytic leukemia. We used the DREAM method, a method for whole genome methylation analysis using NGS, to analyze methylation profiling of patients with juvenile myelomonocytic leukemia.

  Study JGAS000292

• Genome-wide association scan in Parkinson's disease

  Genome-wide association scan was performed in 1,705 cases of parkinson's genotyped on the Illumina Human 660W SNP array, and 5,175 controls genotyped on the Illumina1.2M-Duo. Analysis was carried out on the overlaps set of SNPs.

  Study EGAS00000000034

• Treatment of CAR T cells with immunomodulatory metabolites

  Anti-Her2-CAR T cells produced from T cells derived from healthy human donors were treated with DMSO (control) or either of the immunomodulatory metabolites indole‐3‐carboxaldehyde (ICA), valeric acid (VA) and isovaleric acid (IVA) to assess effects on CAR T cell function.

  Study EGAS50000001386

• Extrachromosomal DNA-driven oncogene dosage heterogeneity determines therapy response in neuroblastoma

  Characterization of ecDNA copy number-dependent plasticity of neuroblastoma patient-derived xenograft models. Data corresponds to single-cell G&T sequencing from an untreated neuroblastoma PDX and single-cell multiome ATAC + gene expression sequencing of a SHH medulloblastoma tumor.

  Study EGAS50000001040

• metastatic uveal melanoma tumour biopsies

  Tumour biopsies were obtained from uveal melanoma patients pre and 16 days post treatment with tebentafusp. Biopsies, which were either snap frozen or put in RNA later, were analysed by bulk RNA sequencing (50 million reads per sample) using the Illumina NovaSeq system.

  Study EGAS50000000864

• metastatic uveal melanoma tumour biopsies (n=35)

  Tumour biopsies were obtained from uveal melanoma patients (n = 35) pre and 16 days post treatment with tebentafusp. Biopsies, which were either snap frozen or put in RNA later, were analysed by bulk RNA sequencing (50 million reads per sample) using the Illumina NovaSeq system.

  Study EGAS50000000836

• Comprehensive genomic characterization of early stage bladder cancer - nanopore sequencing

  For this project about non-muscle invasive bladder cancer (NMIBC), we analysed long read sequencing data from 4 patients using the Nanopore platform. The dataset is composed of 8 BAM files: 4 tumor samples and 4 paired blood samples.

  Study EGAS50000000510

• WTCCC case-control study for Bipolar Disorder - Combined Controls

  WTCCC genome-wide case-control association study for Bipolar Disorder (BD) using six disease collections together with the 1958 British Birth Cohort and the UK National Blood Service collections as controls.

  Study EGAS00000000002

• Using RNA-sequencing to characterize the resistance to lirafugratinib

  In addition to Exome-sequencing, we used RNA-sequencing to also characterize 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 EGAS50000001370

• RNA004 Nanopore DRS of peripheral blood

  Direct RNA Sequencing offers the capability of standard transcriptomic analyses + RNA modification analysis, which holds promising applications for future clinical workflows. To this end, we tested the newly available RNA004 kit on human peripheral blood and provide orthogonal GLORI measurement for benchmarking of m6A-detection.

  Study EGAS50000001201

• Single cell RNA sequencing of co-culture of human organoids with polarized pro-inflammatory (M1) or anti-inflammatory (M2) macrophages

  Human intestinal organoids co-cultured with pro-inflammatory (M1) or anti-inflammatory (M2) human macrophages for 48 hours. 3 days after the co-culture alive cells were sorted and processed for single cell RNA sequencing

  Study EGAS50000000467

• Comprehensive genomic characterization of early stage bladder cancer - shallow whole genome sequencing data

  For this project about non-muscle invasive bladder cancer (NMIBC), we analysed shallow WGS data from 362 patients. The dataset is composed of 392 BAM files: 362 tumor samples, 15 female normal samples and 15 male normal samples.

  Study EGAS50000000513

• Cardiometabolic effects of Anaerobutyricum soehngenii

  This study investigated the effects of the probiotic strain Anaerobutyricum soehngenii on plasma metabolites and cardiometabolic parameters. Strain engraftment was determined through strain tracking of fecal metagenomics. Plasma metabolites levels were determined using untargeted metabolomics. Additionally the interaction with metformin dose was studied.

  Study EGAS50000000415

• Oxel Pilot Study

  This pilot study will provide preliminary data regarding the role of a peripheral immunoscore (PIS) in predicting the benefit of immune checkpoint inhibition with or without chemotherapy for high risk patients with triple-negative breast cancer (TNBC) and residual disease after effective neoadjuvant chemotherapy.

  Study EGAS50000000222

• Gut 16S rRNA/FINRISK 2002

  The main goal of the project is the study the associations between the gut 16S rRNA and human health. The dataset contains data for FINRISK 2002 participants (a random sample of individuals living in six geographic areas in Finland) who underwent fecal sampling.

  Study EGAS50000000198

• TenK10K Phase 1: scRNA-seq fastq format sequencing data

  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. This analysis consists of 4,768 fastq format files in 1,192 runs, and an analysis which provides the relationship of 298 library pool samples to 1,925 individual samples.

  Dataset EGAD50000002517

• Aligned FOS RNA sequencing data

  Total RNA-sequencing Paired-End was performed by GenomeScan (Leiden, the Netherlands) on the NovaSeq6000 platform for full-length FOS (FOS FL), truncated FOS (FOSΔ), a FOS isoform with an L376N mutation (FOS mut), untransduced fMSC (unt) and fMSC with empty pLV (pLV) at week 0, 1, 2, and 3 in triplicate (total of 60 samples). Raw RNA-seq data were processed by the RNA-seq BioWDL pipeline pipeline version 5.0.0 developed by the SASC team at LUMC, LUMC, Leiden, the Netherlands).

  Dataset EGAD50000001839

• Monosomy 7 delineates a primitive acute myeloid leukemia with adverse prognosis and responsiveness to epigenetic therapy

  The dataset comprises 27 single-cell multiome (ATAC + GEX) datasets generated from 13 patients with AML, collected across different stages of disease progression. In addition, matched long-read sequencing data from 5 samples were used to enable longitudinal analyses throughout the manuscript. Finally, bulk RNA-seq and ATAC-seq datasets from the cell line used in this study are also included.

  Dataset EGAD50000002359

• 46 WES paired FASTQ germline/tumour samples from 23 early-onset prostate cancer donors from the Bob Champion Cancer Trust

  The dataset contains 46 samples: a germline and tumour sample from each of 23 donors. Donors are men diagnosed with prostate cancer at a young age, from the Bob Champion Cancer Trust. The data consists of 92 whole exome sequenced paired FASTQ files, compressed with bgzip. Exome sequences were enriched using Agilent SureSelect XT2 Human All Exon V5 baits, and sequenced with Illumina HiSeq 2500.

  Dataset EGAD50000002112

• Precancerous lesions in Lynch Syndrome

  This dataset includes whole-exome sequencing data from precancerous colorectal lesions (adenomas and advanced adenomas) obtained from 19 patients with Lynch syndrome. Forty-four samples are analyzed, including 33 mismatch repair–deficient (dMMR) and 11 mismatch repair–proficient (pMMR) lesions as assessed by immunohistochemistry. Library preparation was performed using the Twist Human Core Exome + RefSeq + Mitochondrial Panel, followed by sequencing on the Illumina NovaSeq 6000 platform. Aligned BAM files were generated with the DRAGEN pipeline using the human reference genome hg38

  Dataset EGAD50000002222

• Bulk RNA sequencing of 36 multi-region IPMN–PDAC tumours comprising 160 sequencing runs

  This dataset contains bulk RNA sequencing data generated from 36 multi-region tumour samples obtained from patients with intraductal papillary mucinous neoplasms (IPMN) and associated pancreatic ductal adenocarcinoma (PDAC). A total of 160 sequencing runs are included. Libraries were prepared from poly(A)-selected RNA and sequenced on an Illumina platform. The data are provided as raw sequencing files for downstream transcriptomic analyses.

  Dataset EGAD50000002215

• WES_dataset2

  Twenty-six EATLs and 22 additional cases of MEITLs (among which 5 had only tumoral tissue available) were sequenced using the xgen research panels v1.0 and v2.0 from IDT DNA (Newark, New Jersey, USA).

  Dataset EGAD50000001621

• Bulk RNA sequencing data of high-grade serous ovarian cancer samples (set 7-17)

  The dataset contains RNA sequencing data of 272 high-grade serous carcinoma (HGSC) patients sequenced with Novoseq 6000, MGISEQ or Hiseq X Ten. The 814 samples are fresh frozen tissue samples that have been collected from different tissues and time points before and during treatment. The files provided are paired fastq files.

  Dataset EGAD50000001370

• RNA004 Nanopore DRS of peripheral blood

  Direct RNA Sequencing offers the capability of standard transcriptomic analyses + RNA modification analysis, which holds promising applications for future clinical workflows. To this end, we tested the newly available RNA004 kit from ONT on human peripheral blood and provide orthogonal GLORI and IVT measurement for benchmarking of m6A-detection. The samples are from peripheral blood of a healthy control, taken at three different timepoints.

  Dataset EGAD50000001710

• cryopreserved PBMC

  This dataset consists of 12 RNA samples derived from peripheral blood mononuclear cells (PBMCs) collected from three healthy donors. The samples cover four experimental conditions: fresh PBMCs (ID: 517210–517212), PBMCs subjected to a single freeze–thaw cycle (ID: 517213–517215), PBMCs refrozen in freezing mix (ID: 517216–517218), and PBMCs refrozen in TRIzol (ID: 517219–517221). Each sample is provided as a FASTQ file, and RNA sequencing was performed using the Illumina platform. This dataset enables the assessment of cryopreservation effects on PBMC transcriptomic profiles.

  Dataset EGAD50000001703

• RNA-seq FASTQ files studied in Generation of hypoimmunogenic induced pluripotent stem cells by CRISPR-Cas9 system and detailed evaluation for clinical application

  This data set contains 12 paired fastq files (RNA-seq) from one wild-type iPS cell, two HLA-KO iPS clones and three CD14+ monocytes differentiated from them. The RNA-seq libraries were generated with Illumina TruSeq Stranded Total RNA library prep kit. The libraries were sequenced with Illumina NovaSeq 6000 in paired-end mode.

  Dataset EGAD50000001700

• stem cell-derived beta cells from cell lines RC9 and HUES8

  stem cell-derived beta cells differentiated using two different cell lines: HUES8 (non-clinical grade) and RC9 (clinical grade). iPSC stem cell lines were differentiated to pancreatic islets using differentiation protocol as detailed by Rajaei et al. (2025, Science Translational Medicine, accepted for publication). scRNAseq was done at stage 7 of differentiation (day 30) using 10X genomics 3' sequencing. Cells were annotated then subsetted for beta cells for downstream analysis

  Dataset EGAD50000001322

• WES of serrated polyposis syndrome

  Samples were obtained from patients diagnosed with serrated polyposis syndrome (SPS). To provide further detail, the dataset comprises two whole-exome sequencing samples from patients within the same family, uploaded in BAM file format with IDs 449758 and 449549. Exomic regions were sequenced using HiSeq2000 Platform (Illumina, San Diego, USA) and Sure SelectXT All Exon v5 kit (Agilent, Santa Clara, CA, USA) for exon enrichment. Only those potentially pathogenic germline genetic variants shared by both individuals were considered.

  Dataset EGAD50000001126

• Indonesian Genome Diversity Project 3

  Low coverage whole genome sequences (1-3x) were collected to study human genetic history across Wallacea archipelago and West Papuan Region of Indonesia . We collected 254 newly sequenced genomes mostly from previously undocumented populations including 9 communities in Wallacea and 3 in West Papuan regions. Out of 254, there are 8 high coverage whole genome sequences were produce in the study (L4).

  Dataset EGAD50000000647

• Clinical data and mapping file

  Patient demographic characteristics, treatment, and survival data for IMbrave151 (N = 162), with one patient per line. Mapping file to map anonymized subject IDs to RNAseq IDs

  Dataset EGAD50000000569

• ICARUS-BREAST01 Dataset

  A phase II clinical trial (NCT04965766) of patritumab deruxtecan in 99 breast cancer patients. Whole-exome sequencing (WES) is available for 43 tumor samples and 43 blood samples collected at entry into the trial. RNA-squencing is available for 44 samples comprising 22 samples collected at entry into the trial and 22 samples collected during treatment (cycle 1 day 3, cycle 1 day 19, or cycle 2 day 3) from 22 patients.

  Dataset EGAD50000000773

• Whole Genome Sequencing of Multiple Myeloma patients treated with T-cell redirecting immunotherapies

  Samples was collected at the Arnie Charbonneau Cancer Institute (University of Calgary). Whole Genome Sequencing was performed at the New York Genome Center, and libraries were prepared using the Truseq DNA Nano Library Preparation Kit. Libraries were sequenced on an Illumina Novaseq 6000 sequencer using 2 x 150-bp cycles. The dataset consists in 85 BAM files from patients with Multiple Myeloma treated with bi-specific and CAR-T therapies. Reference Genome: GRCh38.

  Dataset EGAD50000000776

• WES profiles from the CheckMate-274 clinical trial

  The dataset contains WES profiles of 487 patients from the CA209-274 clinical trial. The Allprep DNA/RNA FFPE kit was used to simultaneously purify genomic DNA and total RNA from formalin-fixed, paraffin embedded (FFPE) tissue sections. Normalized WES libraries were pooled and sequenced on Illumina NovaSeq 6000 at a plex level appropriate to the coverage of tumor: 2 × 100 bp PE 100 M reads, germline: 2 × 100 bp PE 25 M reads.

  Dataset EGAD50000000792

• RNASeq profiles of ROBUST clinical trial and processed WGS mutation calls output

  The dataset contains RNAseq profiles of 1040 patients from the ROBUST clinical trial (NCT02285062). The Allprep DNA/RNA FFPE kit was used to simultaneously purify genomic DNA and total RNA from formalin-fixed, paraffin embedded (FFPE) tissue sections. RNAseq libraries (75PE, 50M) were constructed using Illumina TruSeq RNA Access method. Fastq files are included. Also includes processed WGS mutation calls output.

  Dataset EGAD50000000482

• Whole genome sequencing of mature B-cell lymphomas to identify MYC, BCL2, and BCL6 rearrangements

  Whole genome sequencing (WGS) data of 12 tumours was generated on an Illumina NovaSeq or HiSeqX instrument. For frozen samples, libraries were constructed using a PCR-free library construction method. For tumours preserved by formalin fixation and paraffin embedding (FFPE), libraries were constructed with a method that included S1 nuclease treatment. Reads were aligned to the grch37 reference with bwa-mem 0.7.17.

  Dataset EGAD50000000474

• Comparison clinical recommendation MASTER and panel sequencing: RNA data

  This dataset contains 19 case/control samples of RNA sequencing data. Sequencing was performed on Illumina HiSeq 4000 and NovaSeq 6000 using TruSeq Stranded mRNA Kit. The sequencing was always paired.

  Dataset EGAD50000000625

• RNAseq profiles from the CheckMate-142 clinical trial

  The dataset contains RNAseq profiles of 57 patients from the CheckMate-142 clinical trial. The Allprep DNA/RNA FFPE kit was used to simultaneously purify genomic DNA and RNA from formalin-fixed, paraffin embedded (FFPE) tissue sections. Baseline tumor tissue samples were processed using the Illumina TruSeq RNA Access in-solution hybrid capture panel and underwent subsequent NGS on the Illumina NovaSeq platform. Fastq files are included.

  Dataset EGAD50000000609

• Sex Differences in MAGEL2 Gene Promoter Methylation in High Functioning Autism - Trends from a Pilot Study Using Nanopore Cas9 Targeted Long Read Sequencing

  Using DNA extracted from peripheral blood, Cas9-targeted nanopore DNA sequencing was used to analyze MAGEL2 gene, including its entire regulatory construct (chr15:23639316-23651466), for sequence variation and 5-methyl-cytosine (5mC) modification in a cohort of adults with HFA compared to sex- and age-matched NC.

  Dataset EGAD50000000726