4982 results for "*oma"

in 45.04 milliseconds.

• Osteosarcoma capture-based RNA sequencing

  This dataset includes 23 specimens from osteosarcoma patients (primary, relapsed, metastatic). It contains bam files from RNA sequencing using a library in which coding regions of cDNA are captured and short-read, paired-end sequencing.

  Dataset EGAD00001008434

• Whole transcriptome profiling of osteosarcoma

  This dataset contains 86 osteosarcoma samples and their matched normals that underwent RNA sequencing using size fractionation, NuGEN Ovation Ultralow Library System V2 preparation, and paired-end sequencing on Illumina HiSeq 2000.

  Dataset EGAD00001008436

• Whole transcriptome profiling of osteosarcoma

  This dataset contains 86 osteosarcoma samples and their matched normals that underwent RNA sequencing using size fractionation, NuGEN Ovation Ultralow Library System V2 preparation, and paired-end sequencing on Illumina HiSeq 2000.

  Dataset EGAD00001008435

• INS01: Targeted sequencing of four tumours from a suspected VHL patient

  This dataset contains fastq files from four tumours that underwent targeted sequencing on panel for suspected VHL disease. The samples contained within the dataset and their corresponding sample ID are: ccRCC - M19-12422, Pheochromocytoma - M19-13800, Expelled lung tissue- M19-13801, and Liver biopsy- M19-13802.

  Dataset EGAD00001008438

• Whole genome sequencing of malignant pleural mesothelioma

  Whole genome sequence from paired tumour and germline samples from mesothelioma patients

  Dataset EGAD00001008447

• WGS and WES data of invasive micropapillary carcinoma of breast

  This study contains whole genome sequencing data and whole exon sequencing data of IMPC tumor and normal tissue sample.

  Dataset EGAD00001008450

• RNAseq data for Failure of Differentiation of the Rhombic Lip Constitutes Medulloblastoma

  We used single-cell transcriptomics to study cells from the developing human cerebellum, and show that different molecular subgroups of medulloblastoma resemble distinct glutamatergic progenitors.

  Dataset EGAD00001008458

• Genomic characterisation of SDH deficient renal cell carcinoma - WGS

  SDH deficient renal cell carcinomas are a rare and recently defined subtype of kidney cancer, often associated with an inherited mutation in one of the SDH gene subunits. This dataset sought to understand the genomic events that underpin tumour formation, from putative cell of origin, characterisation of the tumour microenvironment, to the genomic evolution of these rare tumours. We performed whole genome and RNA sequencing of 4 patients with SDH deficient renal cell carcinomas, including one patient who had an additional paraganglioma. An addition patient in this cohort had the initial diagnosis revised to a clear cell renal cell carcinoma.

  Dataset EGAD00001008469

• Genomic characterisation of SDH deficient renal cell carcinoma - RNA

  SDH deficient renal cell carcinomas are a rare and recently defined subtype of kidney cancer, often associated with an inherited mutation in one of the SDH gene subunits. This dataset sought to understand the genomic events that underpin tumour formation, from putative cell of origin, characterisation of the tumour microenvironment, to the genomic evolution of these rare tumours. We performed whole genome and RNA sequencing of 4 patients with SDH deficient renal cell carcinomas, including one patient who had an additional paraganglioma. An addition patient in this cohort had the initial diagnosis revised to a clear cell renal cell carcinoma.

  Dataset EGAD00001008470

• CRUK Accelerator: oesophageal adenocarcinoma whole exome and RNA-seq raw sequencing data

  Whole exome and RNASeq raw sequencing data for a cohort of 7 male patients with oesophageal adenocarcinoma. Median age at diagnosis was 68. Tumour tissue and PBMCs were used for whole exome sequencing and RNA sequencing. This data was generated as part of a study funded by a Cancer Research UK Centres Network Accelerator Award Grant (A21998).

  Dataset EGAD00001008489

• WES from tFL with PMBL GE signature

  Exome sequencing data from transformed Follicular Lymphoma samples that express a PMBL-like gene expression signature

  Dataset EGAD00001008498

• Orthotopic murine Group 3 medulloblastoma in C57Bl/6 mice treated with sham or craniospinal irradiation

  Mice with medulloblastoma (Group 3) were treated with sham (isofluorane and imaging xray) or CSI as described by Abbas et al (2022). Total RNA was isolated with RNeasy Plus Mini Kit (Qiagen), library preparation (SureSelect, Agilent), rRNA depletion (Ribo-Zero Plus, Illumina) and sequencing were carried out by GenomicsWA or Australian Genome Research Facility. Libraries were sequenced on NovaSeq 6000 S1 flow cells as paired-end 150bp reads (Illumina).

  Dataset EGAD00001008510

• Orthotopic murine Group 3 medulloblastoma in C57Bl/6 mice treated with saline, cyclophosphamide or gemcitabine

  Mice with medulloblastoma (Group 3) were treated with saline, cyclophosphamide, or gemcitabine as described by Abbas et al (2020). Total RNA was isolated with RNeasy Plus Mini Kit (Qiagen), library preparation (SureSelect, Agilent), rRNA depletion (Ribo-Zero Plus, Illumina) and sequencing were carried out by GenomicsWA or Australian Genome Research Facility. Libraries were sequenced on NovaSeq 6000 S1 flow cells as paired-end 150bp reads (Illumina).

  Dataset EGAD00001008511

• Epithelioid sarcoma dataset

  This deposit consists of DNA and RNA sequencing data from 32 EPS patients. 28 samples had tumor DNA sequencing data. 2 had matched normal sequencing data. 27 samples had tumor RNA sequencing data.

  Dataset EGAD00001008515

• Transcriptome analysis for intrahepatic cholangiocarcinoma

  Intrahepatic cholangiocarcinomas (iCCs) are characterized by their rarity, difficulty in diagnosis, and overall poor prognosis. We performed comprehensive transcriptomic characterization of treatment-naive iCC. Whole transcriptome analyses identified two prognostic subtypes, concordant with previous reports.The findings could assist in patient stratification with iCCs and in developing rational therapeutic strategies.

  Dataset EGAD00001008544

• WGS and WES data for manuscript titled: ctDNA as a biomarker of progression in oesophageal adenocarcinoma

  WGS and WES data for manuscript titled: ctDNA as a biomarker of progression in oesophageal adenocarcinoma

  Dataset EGAD00001008554

• A Proteogenomic Analysis of Clear Cell Renal Cell Carcinoma in a Chinese Population

  Whole exome sequecing data of 224 Chinese Clear Cell Renal Cell Carcinoma patients.

  Dataset EGAD00001008556

• Genomic analysis for intrahepatic cholangiocarcinoma

  Intrahepatic cholangiocarcinomas (iCCs) are characterized by their rarity, difficulty in diagnosis, and overall poor prognosis. We performed comprehensive genomic characterization of treatment-naive iCC. This study reports a large-scale genomic analysis of iCC. The findings could assist in patient stratification with iCCs and in developing rational therapeutic strategies.

  Dataset EGAD00001008557

• Berlin Neuroblastoma Patient Genomic Data from Targeted Sequencing

  Targeted DNA sequencing data of paired primary and relapse tumor material taken from a pediatric patient with neuroblastoma.

  Dataset EGAD00001008564

• Targeted sequencing of diffuse large B-cell lymphoma tumour samples from the UK's Haematological Malignancy Research Network

  Targeted sequencing was applied to an unselected population-based diffuse large B-cell lymphoma cohort (n=928) diagnosed in the UK's Haematological Malignancy Research Network catchment population of ~4 million (14 centres). DNA extracted from tumour samples was sequenced with a 293-gene panel using the Illumina HiSeq 2500. All data are provided in the CRAM format.

  Dataset EGAD00001008616

• RNA-Seq data on multiple myeloma CD138positive bone marrow plasma cells

  RNA-Seq data on multiple myeloma CD138positive bone marrow plasma cells, 11 samples, sequenced on HiSeq 4000 and HiSeq X-Ten, using mostly the TruSeq stranded mRNA Kit.

  Dataset EGAD00001008619

• Ampliseq library database

  This database contains 46 samples for early stage ovarian high grade serous carcinoma project. Amplicon sequencing on 37 tumour samples from early stage ovarian high grade serous carcinoma as well as 5 adjacent normal tissue samples and 4 whole blood samples.

  Dataset EGAD00001008587

• shallow whole genome sequencing dataset

  shallow whole genome sequencing dataset contains 44 samples. all the samples are early stage high ovarian high grade serous carcinoma.

  Dataset EGAD00001008588

• Clear cell sarcoma dataset

  This deposit consists of DNA and RNA sequencing data from 67 CCS samples. 55 samples had tumor DNA sequencing data. 6 had matched normal sequencing data. 34 samples had tumor RNA sequencing data.

  Dataset EGAD00001008611

• 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

• Whole genome sequencing of Multiple Myeloma CD138positive bone marrow plasma cells and saliva control samples

  Whole genome paired sequencing of Multiple Myeloma CD138positive bone marrow plasma cells and saliva control samples (6 tripletts, tumor1, tumor2, saliva control) from 6 patients. WGS was done on HiSeq X-Ten or Novaseq 6000 with Illumina TruSeq Nano DNA.

  Dataset EGAD00001008618

• Myeloma Genome Project Targeted Panel Validation dataset

  372 samples consisting of 185 patient paired CD138+ tumor and non-involved DNA pairs, plus 5 Horizon Diagnostic known mutation standards (HD). Samples were processed using the KAPA HyperCap protocol and hybridized onto a targeted panel for multiple myeloma and associated diseases. Reference Sudha et al Clinical Cancer Research, 2022.

  Dataset EGAD00001008689

• Transcriptome: chondrosarcoma

  Transcriptome sequencing of nine patients diagnosed with chondrosarcoma. cDNA was generated using the NuGEN Ovation RNA-Seq FFPE system. Total RNA was randomly primed and thermally sheared and the resulting cDNA fragment was amplified. The cDNA was then mechanically sheared using sonication to generate ~250 bp fragments. Sequencing libraries were generated using the NuGEN Ovation Ultralow System V2 library prep kit and sequenced on HiSeq2500 TruSeq v3.

  Dataset EGAD00001008699

• Molecular and clinical diversity in primary central nervous system lymphoma: a LOC network multi-omic PCNSL study

  Primary central nervous system lymphoma (PCNSL) is a distinct extranodal lymphoma presenting with limited stage disease but variable response rates to treatment despite homogenous pathological presentation. The likely underlying molecular heterogeneity and its clinical impact is poorly understood. The present dataset contents paired-ended whole-exome sequencing information (n=115; HyperExome Kapa hyperprep), paired-ended RNA-seq information (n=123; KAPA mRNA HyperPrep Kits), and paired-ended bisulfite sequencing (n=64; TruSeq Methyl Capture EPIC) from fresh-frozen tumor tissue immunocompetent, treatment naïve PCNSL patients. Additionally, the dataset includes single-ended RNA-seq (n=93; QuantSeq 3’ mRNA-Seq Library Prep Kit) from formalin-fixed, paraffin-embedded tissue of immunocompetent, treatment naïve PCNSL patients. All samples were sequenced in an Illumina NovaSeq 6000 instrument.

  Dataset EGAD00001008706

• Sexual dimorphism AR RNASeq

  Human (n=34) and mice (n=68) melanoma tumor WXS dataset.

  Dataset EGAD00001008708

• Sporadic multiple meningioma Genomics

  Wes for 15 multiple meningioma samples from 6 individual

  Dataset EGAD00001008710

• Myeloma Genome Project Targeted Sequencing Panel - Oxford Data

  This dataset comprises the BAM files from targeted genome sequencing of CD138+ selected myeloma tumour samples from 21 individuals. In 5 cases there is only one tumour sample, but in the other 16 cases there are sequential samples, spanning treatment relapses. There are denoted Tumor A, B C etc. Therefore there are a total of 48 myeloma tumour samples. For each individual there is also a germline control samples, obtained either from peripheral blood or from CD138-selected bone marrow cells.

  Dataset EGAD00001008735

• 20210708_EGA_Melanoma_mk2 WGS 570 donors

  Illumina platform whole genome sequencing data for matched tumour-normal DNA samples from 570 melanoma patients

  Dataset EGAD00001008798

• HiC (chromosomal conformation capture) data for Oncogenic 3D genome conformations identify novel therapeutic targets in ependymoma

  This dataset contains chromosomal conformation capture data from fourteen samples (eleven tumor samples and three tumor derived cell lines). Libraries were prepared using the Illumina TruSeq LT sequencing adaptors. Sequencing was performed on the HiSeq X or NovaSeq platforms resulting in 28 FASTQ files.

  Dataset EGAD00001008801

• Whole Genome Bisulfite sequencing data for Oncogenic 3D genome conformations identify novel therapeutic targets in ependymoma

  This dataset contains Whole Genome Bisulfite sequencing data from seven samples (six tumor samples and on tumor derived cell line). Sequencing was performed Illumina HiSeq 2000 machine resulting in 14 FASTQ files.

  Dataset EGAD00001008805

• CTCF ChIP-sequencing data for Oncogenic 3D genome conformations identify novel therapeutic targets in ependymoma

  This dataset contains CTCF ChIP-sequencing data from seven samples (six tumor samples and one tumor derived cell line). Following library amplification, DNA fragments were sequenced using Illumina HiSeq 2000 paired-end sequencing resulting in 14 FASTQ files.

  Dataset EGAD00001008806

• Single cell atlas of human glioma

  We profiled 87 primary-recurrentpatient-matched paired GBM specimens with single-nucleus RNA and bulk-DNA sequencing and single-cell open-chromatin and spatial transcriptomics/proteomics assays. We found that recurrent GBMs are characterized by a shift to a mesenchymal phenotype in response to therapy

  Dataset EGAD00001008811

• RNASeq files for Roussel-MBPRG

  RNASeq files for Roussel-MPBRG paper titled "Combination of ribociclib and gemcitabine for the treatment of medulloblastoma"

  Dataset EGAD00001008824

• Mesothelioma of the peritoneum and Pseudomyxoma peritonei

  Mesothelioma of the peritoneum (n=21) and Pseudomyxoma peritonei/mucinous adenocarcinoma of the appendix (n=11)

  Dataset EGAD00001008826

• Melanoma mk2 RNASeq

  Illumina RNASeq sequencing of tumour samples from 230 cases of melanoma

  Dataset EGAD00001008837

• RNASeq files for Roussel MBPRP

  RNASeq files for Roussel paper titled "Combination of CDK4/6 with BET-bromodomain and PI3K/mTOR inhibitors in medulloblastoma in vitro and in vivo"

  Dataset EGAD00001008842

• Dataset for synovial_sarcoma-RNA

  Rare cancer sequencing data of 23 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired

  Dataset EGAD00001008844

• Dataset for leiomyosarcoma-RNA

  Rare cancer sequencing data of 87 runs in tumor/control pairs, which were uploaded to umbrella studies. The sequencing was always paired

  Dataset EGAD00001008849

• Whole exome data from PMID27216186

  This dataset comprises complete exome data from from the study PMID27216186 (Harbst & Lauss et al, Cancer Research 2016). These data are from 49 samples (tumor and matched normal) from 8 patients representing multi-region sequencing of human melanoma. Files are in the BAM format and contain aligned and processed data used for e.g. somatic variant calling. The sequencing libraries were constructed using SureSelect target enrichment with Clinical Research Exome Panel (Agilent) and sequenced on a HiSeq2500 (Illumina).

  Dataset EGAD00001008149

• WGS samples for multiple myeloma (hipo-067 and hipo-K08K)

  Four PAIRED WGS samples, tumor and control, were sequenced on a HiSeq X Ten and the library preparation kit used was Illumina TruSeq Nano DNA. The tumor was multiple myeloma from bone marrow.

  Dataset EGAD00001008150

• Multi-region targeted Sequencing data of 10 neuroblastoma cases

  To investigate intratumour heterogeneity and to better understand tumour evolution in neuroblastoma, we have performed a multi-region targeted re-sequencing on a total of 140 samples from 9 primary neuroblastomas (2 low-risk, 1 intermediate-risk and 6 high-risk) and 2 relapsed neuroblastoma.

  Dataset EGAD00001008156

• WES data from 5 DGCR8 schwannomas

  This dataset contains the exome sequencing data (BAMs, VCFs and CNVs) from 5 schwannoma tumors from the same patient.

  Dataset EGAD00001008200

• Transcriptome sequencing of hepatocellular carcinoma biopsies (TACE study)

  Illumina-based RNA-Seq analysis of 93 liver samples. Biopsies of tumors and non-tumor tissues are included. Samples are stratified by response and non-response to TACE treatment.

  Dataset EGAD00001008158

• Genomic abnormalities of TP53 define distinct risk groups of paediatric B-cell non-Hodgkin lymphoma

  Whole exome sequencing data from 90 diagnostic lymphoma samples run and published as part of the Leukemia manuscript. 133 total exomes were sequenced including tumour and normal controls. Copy number array data was also generated for 95 patients.

  Dataset EGAD00001008162

• Whole-exome sequencing of hepatocellular carcinoma biopsies

  All 122 HCC biopsies and 115 non-tumoral tissues from 114 patients were subjected to whole-exome sequencing. Whole-exome capture was performed using the SureSelectXT Clinical Research Exome (Agilent Technologies) or SureSelect Human All Exon V6+COSMIC (Agilent Technologies) platforms according to the manufacturer’s guidelines. Sequencing was performed on an Illumina HiSeq 2500 at the Genomics Facility Basel according to the manufacturer’s guidelines. Paired-end 101-bp reads were generated.

  Dataset EGAD00001008182

• Targeted seqencing of serrated lesions of the colorectum

  Dataset consists of Oncomine Comprehensive Cancer Panel v3 sequencing of 16 tumor-normal mucosa pairs. Tumors include 8 sessile serrated lesions (SSL), 3 sessile serrated lesions with dysplasia (SSL/D), 2 traditional serrated adenomas (TSA) and 3 tubular adenoma s(TA).

  Dataset EGAD00001008191

• Pre-neoplastic somatic mutations including MYD88L265P in lymphoplasmacytic lymphoma

  In this study, we sequenced multiple stages of the B-lineage in elderly individuals and patients with lymphoplasmacytic lymphoma to study whether mutations are accumulated in normal-cell counterparts prior to lymphoma

  Dataset EGAD00001008196

• Transcriptome sequencing of hepatocellular carcinoma biopsies

  RNA-sequencing of 122 hepatocellular carcinoma biopsies and 15 normal liver biopsies. RNA-seq library prep was performed with 200 ng total RNA using the TruSeq Stranded Total RNA Library Prep Kit with Ribo-Zero Gold (Illumina) according to manufacturer’s specifications. Single-end 126-bp sequencing was performed on an Illumina HiSeq 2500 using v4 SBS chemistry at the Genomics Facility Basel according to the manufacturer’s guidelines. Primary data analysis was performed with the Illumina RTA version 1.18.66.3.

  Dataset EGAD00001008205

• OSTEOMICS_RNA

  RNA sequencing of 79 libraries were prepared, from sample of Osteosarcoma tumors biopsied at diagnosis, with TruSeq Stranded mRNA kit following recommendations: the key steps consist of PolyA mRNA capture with oligo dT beads using 1µg total RNA, fragmentation to approximately 400pb, DNA double strand synthesis, and ligation of Illumina adaptors amplification of the library by PCR for sequencing. Libraries sequencing was performed using Illumina sequencers (NextSeq 500 or Hiseq 2000/2500/4000) in 75 bp paired-end mode.

  Dataset EGAD00001008213

• Sequencing data for oesophageal and related samples - Izadi et al (WGS, RNA)

  Data supporting: "Genomic analysis of response to neoadjuvant chemotherapy in esophageal adenocarcinoma" Izadi et al. WGS for tumour and normal samples. RNAseq for tumour samples.

  Dataset EGAD00001007493

• RBSC11

  One retinoblastoma sample was studied by single-cell RNA-sequencing (10X genomics Chromium).

  Dataset EGAD00001007497

• Pediatric Papillary Thyroid Carcinoma RNA-Seq

  38 PPTCs were sequenced using RNASeq to identify oncogenic variants in driver-unknown tumors and to explore gene expression patterns. RNA libraries were quantified by qPCR using the Kapa Library Quantification Illumina/ABI Prism Kit protocol (KAPA Biosystems). Libraries were pooled in equimolar quantities and paired-end sequenced on 2 lanes of a High Throughput Run Mode flowcell with the V4 sequencing chemistry on an Illumina HiSeq 2500 platform following Illumina’s recommended protocol to generate paired-end reads of 126-bases in length.

  Dataset EGAD00001007499

• Pediatric Papillary Thyroid Carcinoma Whole Exome Sequencing

  Exome libraries from 47 blood and tissue samples were prepared using Agilent SureSelect Human Exome Library Preparation V5 kit and the Agilent Bravo Automation System fExome libraries were pooled and sequenced with the TruSeq SBS sequencing chemistry using a V4 high throughput flowcell on a HiSeq 2500 platform following Illumina’s recommended protocol. Approximately 6-8 gigabases of raw paired end data of 126-bases were generated per exome library.

  Dataset EGAD00001007502

• Somatic copy-number alterations in plasma circulating tumor DNA from advanced EGFR-mutated lung adenocarcinoma patients

  This is the raw data obtained from shallow whole-genome sequencing of plasma DNA (plasma-seq) for calling of somatic copy number alterations as well as focal amplifications from patients with lung cancer.

  Dataset EGAD00001007505

• Paired WES and low coverage WGS of osteosarcoma

  Longitudinal genome-sequencing analysis of 12 patients with metastatic or refractory osteosarcoma. The study was approved at the University Hospital Basel, following the approval of the ethical committee for mutational analysis of anonymized samples (“Ethikkommission beider Basel” ref. 274/12). Informed consent was obtained from all 12 patients. All tumor samples were evaluated by an experienced bone pathologist to confirm the diagnosis. WES and low coverage WGS are aligned against the reference genome GRCh37. More details in the associated publication.

  Dataset EGAD00001007509

• Metastatic Pediatric Sclerosing Epithelioid Fibrosarcoma

  This dataset contains different samples from a single patient with SEF. The dataset contains whole genome, whole exome and RNAseq information. Two of the DNA sequencing samples also contain matched normals.

  Dataset EGAD00001007516

• Metastatic Pediatric Sclerosing Epithelioid Fibrosarcoma

  This dataset contains different samples from a single patient with SEF. The dataset contains whole genome, whole exome and RNAseq information. Two of the DNA sequencing samples also contain matched normals.

  Dataset EGAD00001007515

• Targeted Germline Sequencing of the Leeds Melanoma Cohort

  In this project we performed targeted sequencing of known and suspected melanoma susceptibility genes in a cohort of melanoma patients and matched controls. Our aim was to identify variants that predispose to melanoma development. The melanoma cases used in this study were population ascertained.

  Dataset EGAD00001007520

• Esophageal Adenocarcinoma Organoid scRNAseq data

  This is 10X single cell RNA-seq data of esophageal adenocarcinoma organoids.

  Dataset EGAD00001007525

• RNAseq from 13 uveal melanoma patients

  RNAseq from 13 uveal melanoma patients

  Dataset EGAD00001007528

• Genetic analysis of HLA and immune escape genes in Diffuse Large B-cell Lymphoma

  We performed genetic analysis of HLA and immune escape genes in samples from 44 patients sequenced by whole exome sequencing (34 tumor samples, 32 normal samples) and whole genome sequencing (10 tumor samples, 12 normal samples). We also performed HLA targeted sequencing in 26/44 patients (26 tumor samples, 26 normal samples).

  Dataset EGAD00001007565

• WGS BAM files fromxa0Genomic Features and Classification of Homologous Recombination Deficient Pancreatic Ductal Adenocarcinoma

  Background and Aims: Homologous recombination deficiency (HRD) in pancreatic ductal adenocarcinoma (PDAC), remains poorly defined beyond germline(g) alterations in BRCA1, BRCA2 and PALB2. Methods: We interrogated whole genome sequencing (WGS) data on 391 patients including 49 carriers of pathogenic variants (PVs) in g_BRCA_ and PALB2. HRD classifiers were applied to the dataset and included: 1) the genomic instability score (GIS) used by Myriad MyChoice HRD assay; 2) substitution base signature 3 (SBS3); 3) HRDetect; and, 4) Structural Variant (SV) burden. Clinical outcomes and responses to chemotherapy were correlated with HRD status. Results: Biallelic tumour inactivation of g_BRCA_ or PALB2 was evident in 43/49 germline carriers identifying HRD-PDAC. HRDetect (score ?0.7) predicted gBRCA1/PALB2 deficiency with highest sensitivity (98%) and specificity (100%). HRD genomic tumour classifiers suggested that 7-10% of PDAC that do not harbor g_BRCA/PALB2_ have features of HRD. Of the somatic HRDetect cases, 69% were attributed to alterations in BRCA1/2, PALB2, RAD51C/D and XRCC2, and a tandem duplicator phenotype. TP53 loss was more common in BRCA1- compared to BRCA2-associated HRD-PDAC. HRD status was not prognostic in resected PDAC. However in advanced disease the GIS (p=0.02), SBS3 (p=0.03) and HRDetect score (p=0.005) were predictive of platinum response and superior survival. PVs in g_ATM_ (n=6) or g_CHEK2_ (n=2) did not result in HRD-PDAC by any of the classifiers. In four patients, BRCA2 reversion mutations associated with platinum resistance. Conclusions: Germline and parallel somatic profiling of PDAC outperforms germline testing alone in identifying HRD-PDAC. An additional 7-10% of patients without gBRCA/PALB2 mutations may benefit from DNA damage response agents.

  Dataset EGAD00001007571

• Single cell transcriptomes of childhood renal tumours

  This data set contains single cell transcriptomes generated using the chromium 10X platform from both fresh cells and nuclei. The samples measured are derived from children with Wilms tumour, Clear Cell Sarcoma of the Kidney (CCSK), or Malignant Rhabdoid Tumours.

  Dataset EGAD00001007572

• CM067 WES - Clinical Outcomes by Tumor Mutational Burden and Inflammatory Gene Expression With Combined Nivolumab and Ipilimumab or Monotherapy in Advanced Melanoma

  Purpose Exploratory analyses of CheckMate 066 and 067 trials were conducted to investigate associations of tumor mutational burden (TMB), a 4-gene inflammatory gene expression signature, and BRAF mutation status with tumor response, progression-free survival (PFS), and overall survival (OS) in patients with advanced melanoma. Patients and Methods Patients with known programmed death ligand 1 (PD-L1) expression and BRAF mutation status received nivolumab (NIVO) or dacarbazine in CheckMate 066 and either NIVO, ipilimumab (IPI), or NIVO+IPI in CheckMate 067. Whole exome sequencing and RNA sequencing were used to determine TMB and inflammatory gene expression signature scores, respectively. These biomarkers were evaluated in terms of their association with PFS and OS. Results In the NIVO, NIVO+IPI, and IPI arms of CheckMate 067, longer survival was associated with high (> median) versus low (≤ median) TMB with hazard ratios (HRs) (95% confidence interval [CI]) for PFS of 0.45 (0.30–0.65), 0.55 (0.38–0.81), and 0.60 (0.43–0.82), and for OS of 0.46 (0.30–0.71), 0.53 (0.34–0.82), and 0.52 (0.36–0.74), respectively. For NIVO-treated patients, these results were confirmed in CheckMate 066. A survival benefit was observed with high TMB and absence of BRAF mutation. Survival was associated with high versus low inflammatory signature scores with HRs (95% CI) for PFS of 0.56 (0.34–0.94), 0.40 (0.23–0.72), and 0.43 (0.27–0.70), and for OS of 0.37 (0.20–0.66), 0.38 (0.19–0.74), and 0.46 (0.27–0.79), in the NIVO, NIVO+IPI, and IPI arms, respectively. Weak correlations were observed between PD-L1, TMB, and the inflammatory signature. Conclusions Combined assessment of TMB, inflammatory gene expression signature, and BRAF mutation status may be predictive for response to immunotherapy in advanced melanoma.

  Dataset EGAD00001007573

• ctDNA dataset

  ctDNA guiding adjuvant immunotherapy in urothelial carcinoma (Nature 2021). ABACUS ctDNA data used in 2021 paper: ctDNA data include TMB_(mut/Mb), cfDNA_extracted_ng, Plasma_Volume_Used_ml, Sample_Call, Sample_Number_Positive_Calls, Sample_Mean_VAF_In_Plasma (%), Sample_MTM_per_mL_In_Plasma across 40 patients in ABACUS.

  Dataset EGAD00001007579

• Clinical dataset (new)

  ctDNA guiding adjuvant immunotherapy in urothelial carcinoma (Nature 2021). ABACUS clinical data cut (2020) used in 2021 paper: Clinical data include PCR, RFS_months, RFS_event, and OUTCOME for 40 patients in ABACUS with ctDNA data.

  Dataset EGAD00001007578

• Single-cell RNA-seq counts and merged data for 28 Hodgkin lymphomas and 5 reactive lymph nodes

  This dataset contains raw count data (10X CellRanger) for 28 Hodgkin lymphoma samples and 5 reactive lymph nodes, and merged data from all samples (RData object) including cell cluster assignments.

  Dataset EGAD00001008270

• SF11310

  Oligodendroglioma, IDH-mutant, 1p19q codeleted

  Dataset EGAD00001008301

• Medulloblastoma cfDNA low-coverage WGS

  Whole genome sequencing of cell free DNA from CSF across timepoints from medulloblastoma clinical trial patients.

  Dataset EGAD00001008277

• Pediatric high grade glioma WES

  We performed whole exome sequencing in DIPG and hemispheric HGG.

  Dataset EGAD00001008279

• Pediatric high grade glioma RNA-Seq

  We performed RNA-Seq in DIPG and hemispheric HGG.

  Dataset EGAD00001008278

• SF10619

  Oligodendroglioma (WHO gr. 2

  Dataset EGAD00001008299

• Ewings sarcoma sequencing data

  This dataset contains samples from 5 patients with ewings sarcoma. 5 samples have whole exome tumor data. 1 sample has tumor RNAseq data. 4 samples have matched normal dna sequence data

  Dataset EGAD00001008282

• SF4007

  Oligodendroglioma (WHO gr. 2

  Dataset EGAD00001008300

• Whole genome landscape of adult T-cell leukemia/lymphoma

  Whole-genome sequence (WGS) data of tumor-normal pairs from 139 ATL patients and RNA sequence (RNA-seq) data of tumors from 28 ATL patients.

  Dataset EGAD00001008289

• Whole exome sequencing of a sinonasal glomangiopericytoma case

  The is dataset includes the whole exome sequencing of the tumor from a sinonasal glomangiopericytoma case together with the matching blood. The whole exome sequencing revealed somatic PIK3CA and CTNNB1 mutations.

  Dataset EGAD00001008291

• SF7003

  Oligodendroglioma (WHO gr. 2)

  Dataset EGAD00001008297

• SF10207

  Oligodendroglioma, Anaplastic (WHO gr. 3

  Dataset EGAD00001008298

• SF10679

  Oligodendroglioma, Anaplastic (WHO gr. 3

  Dataset EGAD00001008302

• SF11940

  Anaplastic Astrocytoma, IDH-mutant

  Dataset EGAD00001008304

• SF7233

  Astrocytoma (WHO gr. 2)

  Dataset EGAD00001008305

• SF6420

  Oligodendroglioma (WHO gr. 2)

  Dataset EGAD00001008306

• SF10922

  Astrocytoma, Anaplastic (WHO gr. 3

  Dataset EGAD00001008307

• SF6420

  Oligodendroglioma (WHO gr. 2)

  Dataset EGAD00001008308

• Human normal esophagus and Barrett's esophagus mtDNA sequencing

  BAM files containing paired-end mtDNA sequencing data from human esophageal samples of individuals that had progressed to dysplasia or developed Barrett's esophagus (BE) post-esophagectomy. BE biopsies and the background mucosa were analysed. Each patient (JE*) has associated mtDNA sequencing data from biopsies of stroma, BE and squamous and cardia tissue. Two technical replicates, denoted "A" and "B", were analysed for each biopsy. Libraries were sequenced via the Illumina MiSeq platform v2 (Illumina, San Diego, CA, USA) 300 cycles (150 nt paired-end).

  Dataset EGAD00001008310

• scRNA-seq of nonhematopoietic cells in human lymph nodes and lymphoma

  Single-cell count data generated by the Cellranger (10X Genomics).

  Dataset EGAD00001008311

• Esophageal adenocarcinoma plasma cfDNA samples - PERFECT cohort and nCRT cohort

  The dataset contains 295 plasma cfDNA samples from various stages of resectable esophageal adenocarcinoma from the PERFECT cohort and the nCRT cohort. Shallow WGS was performed on an Illumina Novaseq S4 PE150bp. Samples are provided as raw reads without any prior processing.

  Dataset EGAD00001008316

• CRUK Accelerator: Non-small cell lung cancer whole exome and RNA sequencing

  Whole exome and RNASeq raw sequencing data for a cohort 24 patients with non-small cell lung cancer, 15 adenocarcinoma (8 female, 7 male) and 9 squamous cell carcinoma(5 female, 4 male). Median age at diagnosis was 69. Tumour tissue and PBMCs were used for whole exome sequencing and RNA sequencing. This data was generated as part of a study funded by a Cancer Research UK Centres Network Accelerator Award Grant (A21998).

  Dataset EGAD00001007934

• RBtargetedSeq

  Retinoblastoma is a rare childhood cancer of the retina. We studied retinoblastoma by Targeted Sequencing.

  Dataset EGAD00001008004

• Human liver mtDNA sequencing

  BAM files containing paired-end mtDNA sequencing data from morphologically normal human liver. Clonal CCO-deficient patches of hepatocytes were identified in human liver samples, and samples were taken along a line spanning approximately from the portal triad to the central hepatic vein. Individual BAM files are named according to their patch, line and cut, where cut 1 is nearest to the portal triad, and cuts 2, 3 etc. lying further from the portal triad. Other file types include "Bulk" samples, contain sequencing data of the remaining CCO-deficient cells that were not sampled as part of the line of cuts, and "Stroma" control samples (used for identifying germ-line variants). Sequenced on NextSeq 500 platform.

  Dataset EGAD00001007991

• Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells

  Cellular DNA damage caused by reactive oxygen species is repaired by the base excision repair (BER) pathway which includes the DNA glycosylase MUTYH. Inherited biallelic MUTYH mutations cause predisposition to colorectal adenomas and carcinoma. However, the mechanistic progression from germline MUTYH mutations to MUTYH-Associated Polyposis (MAP) is incompletely understood. Here, we sequenced normal cell DNAs from 10 individuals with MAP and study the somatic mutation burden and mutational signatures.

  Dataset EGAD00001007997

• Tumor Thrombus Dataset

  the dataset contains Exome and RNA fastq files of Renal Cell Carcinoma patients, which belongs to "Integrated genomic analysis of tumor thrombus"/

  Dataset EGAD00001008010

• Genome and transcriptome sequence data from a poorly differentiated chordoma of C1-C2 spine patient

  Genome and transcriptome sequence data from a poorly differentiated chordoma of C1-C2 spine patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001008012

• Genome and transcriptome sequence data from an unspecified tissue chordoma patient

  Genome and transcriptome sequence data from an unspecified tissue chordoma patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001008013

• Sequence Data from the phase 2 PrE0505 trial of Durvalumab with First Line Platinum-Pemetrexed for Unresectable Pleural Mesothelioma

  Dataset comprises of 84 bam files from exome sequencing data, including 40 tumor-normal pairs and 4 normal files. Each sample is numbered by the patient case ID such as 135, 156 and so on. The filenames are suffixed with "_tumor" and "_normal" to indicate tumor and normal bam files respectively.

  Dataset EGAD00001008016