16461 results for "sec+and+unspecified+malignant+neoplasm"

in 31.80 milliseconds.

• WES files for CHEN WTPDX WES

  WES files for CHEN WTPDX paper titled "Forty-Five patient-derived xenografts capture the clinical and biological heterogeneity of Wilms tumor"

  Dataset EGAD00001004506

• DNMT3A microcephalic primordial dwarfism RRBS data

  RRBS sequence data from one control and one patient with de novo DNMT3A mutations resulting in microcephalic primordial dwarfism.

  Dataset EGAD00001004472

• Genomic heterogeneity recapitulated in a PDXovo model - WXS unaligned reads

  Ultra-Fast Patient-Derived Xenografts Identify Functional and Spatial Tumour Heterogeneities that Drive Therapeutic Resistance - WXS unaligned reads

  Dataset EGAD00001003590

• Ethiopia_Genome_Project_and_Egyptian_low_coverage_vcf

  Integrated callset of low coverage Ethiopian and Egyptian genomes from the Pagani et al. 2015 AJHG paper (doi: http://dx.doi.org/10.1016/j.ajhg.2015.04.019)

  Dataset EGAD00001003296

• Exome sequencing of relapsed/refractory DLBCL

  This dataset consists of the exome sequencing data for 30 tumour and germline DNA pairs derived from relapsed/refractory DLBCL.

  Dataset EGAD00001003395

• Whole genome sequence of hepatocellular carcinoma (BCM)

  Exome fastq files of 98 hepatocellular carcinoma and matched nomral (BCM, HCC-JP)

  Dataset EGAD00001003804

• Whole-exome sequencing data of Hepato-Cholangiocarcinoma

  Hepatocellular carcinoma specimens, intrahepatic cholangiocarcinoma specimens and liver normal tissues collected from 7 samples, including 44 fastq files from whole exome sequencing.

  Dataset EGAD00001003892

• Myeloma Follow up Pilot

  Targeted capture of exonic and intronic regions of interest for the study of genomic alterations in multiple myeloma.

  Dataset EGAD00001000998

• Whole-exome and transcriptome in RMS

  Whole-exome sequencing in 16 RMS casesWhole-transcriptome sequencing in 8 RMS cases

  Dataset EGAD00001001105

• VCRC Imaging Protocol for Magnetic Resonance and Positron Emission Tomography in Large-Vessel Vasculitis (Takayasu's Arteritis): Development as Clinical Trial Outcome Measures Vasculitis Clinical Research Consortium

  Takayasu's arteritis is a rare disease that affects the blood vessels. Takayasu's arteritis can cause swelling of large and medium-sized blood vessels. The blood vessels that are commonly affected are the branches of the aorta (the main blood vessel that leaves the heart). The purpose of this study is to help doctors learn more about this disease by using x-ray like tests to see if they are helpful in taking care of patients with Takayasu's arteritis. This is an imaging study that compares x-ray-like tests that would not be a part of your regular care (PET/CT) with x-ray-like tests that are a part of your regular care (MRI). At two visits, three months apart, patients will have a PET/CT scan performed at the same time as their MRI scan; some patients will also have a third PET/CT scan. A total of 36 people with Takayasu's arteritis at several hospitals will take part in this study. Doctors will use images from the different time points, along with information from exams and symptoms, to learn more about the disease.

  Study phs001715

• Genomic profiling of Acute Lymphoblastic Leukemia in Ataxia Telangiectasia patients reveals tight link between ATM mutations and chromothripsis

  Recent developments in sequencing technologies led to the discovery of a novel form of genomic instability, termed chromothripsis. This catastrophic genomic event, involved in tumorigenesis, is characterized by tens to hundreds of simultaneously acquired locally clustered rearrangements on one chromosome. We hypothesized that leukemias developing in individuals with Ataxia Telangiectasia, who are born with two mutated copies of the ATM gene, an essential guardian of genome stability, would show a higher prevalence of chromothripsis due to the associated defect in DNA double-strand break repair. Using whole-genome sequencing, fluorescence in situ hybridization and RNA sequencing, we characterized the genomic landscape of Acute Lymphoblastic Leukemia (ALL) arising in patients with Ataxia Telangiectasia. We detected a high frequency of chromothriptic events in these tumors, specifically on acrocentric chromosomes, as compared to tumors from individuals with other types of DNA repair syndromes (27 cases total, 10 with Ataxia Telangiectasia). Our data suggest that the genomic landscape of Ataxia Telangiectasia ALL is clearly distinct from that of sporadic ALL. Mechanistically, short telomeres and compromised DNA damage response in cells of Ataxia Telangiectasia patients may be linked with frequent chromothripsis. Furthermore, we show that ATM loss is associated with increased chromothripsis prevalence in additional tumor entities.

  Study EGAS00001002270

• Surgery in combination with immune checkpoint therapy as an effective treatment for patients with metastatic cancer.

  Abstract Surgical removal of primary tumors was shown to reverse tumor-mediated immune suppression in pre-clinical models with metastatic disease. However, how cytoreductive surgery in the metastatic setting modulates the immune responses in patients, especially in the context of immune checkpoint therapy (ICT)-containing treatments is not understood. Here, we report the first prospective, non-comparative clinical trial (N=104) using three different ICT-containing strategies plus cytoreductive or “debulking” surgery to remove the primary tumor-bearing kidney or a metastatic lesion as a treatment for patients (N=43) with metastatic clear cell renal cell carcinoma (mccRCC). For those patients (N=61) who were not candidates for cytoreductive surgery, a biopsy was obtained instead for correlative biological studies. Our data demonstrated that the combination of ICT with cytoreductive surgery was safe and feasible in patients with mccRCC. The 2-year overall survival was 84% with a median OS of 54.7 months for patients who received ICT containing regimens plus surgery. Immune-monitoring studies with co-detection by indexing (CODEX) identified distinct tumor spatial conformation of cellular subsets as a novel and improved predictor of response to ICT. Importantly, single-cell RNA-sequencing data demonstrated that surgical removal of the tumor increased antigen-presenting dendritic cell population with a concurrent reduction in KDM6B expressing immune-suppressive myeloid cells in the peripheral blood. Together, this study highlighted the feasibility of combining ICT with cytoreductive surgery in a metastatic setting and demonstrated potential enhancement of immune responses following ICT plus cytoreductive surgery in patients with metastatic disease.

  Study EGAS00001005667

• HIV exome pilot, exome data part 2 GRCh37_53

  exome sequence data for 25 HIV elite long term non-progressors and rapid progressors. Partial dataset (overlap with EGAD00001000047) of raw BAMs mapped to GRCh37_53.

  Dataset EGAD00001000087

• prcmd-G-1

  Genetic studies of pregnancy-related cardiometabolic disorders in Central Asian, Northern European, and Colombian populations

  Dataset EGAD00010001212

• germline omni2.5

  Over 2.5 million SNP and CNV loci are screened by Illumina Infinium Omni2.5Exome-8 Kit

  Dataset EGAD00010001636

• leukemia omni2.5

  Over 2.5 million SNP and CNV loci are screened by Illumina Infinium Omni2.5Exome-8 Kit

  Dataset EGAD00010001638

• GCAT| SNParray coreSpain V2

  4988 samples issued from GCAT cohort, genotyped with MEGAex-Infinium Array, with data for Cr1-22. Plink files with QC and imputed (SHAPEIT+IMPUTE).

  Dataset EGAD00010001664

• DNA-Methylation data for atypical teratoid/rhabdoid tumoroids study

  We demonstrate that ATRT tumoroids retain subgroup-specific epigenetic and gene expression profiles

  Dataset EGAD00010002400

• CCA methylation data (12 CCA, 7 normal)

  Raw idat files for DNA methylation profiling for 12 CCAs and 7 normal bile duct tissues. DNA methylation profiling was performed using Infinium MethylationEPIC v2.0 Kit.

  Dataset EGAD00010002613

• WGS and WXS for mismatch repair-deficient human colon organoids

  Whole genome/exome sequencing to detect spontaneous acquired mutations in mismatch repair-deficient human colon organoids.

  Dataset EGAD50000000159

• Lifelines NEXT 16S v3-v4 amplicon sequencing

  16S v3-v4 amplicon sequencing of milk, fecal and oral cavity samples, along with sequencing controls, of a subset of newborn infants from Lifelines NEXT cohort

  Dataset EGAD50000000180

• RNA-seq data for Heterogeneity of IKZF1 genomic alterations and risk of relapse in childhood BALL

  RNA-seq data for 14 samples with B-cell acute lymphoblastic leukemia

  Dataset EGAD50000000151

• Metadata associated with sequencing data

  Metadata associated with 16SV4 ribosomal RNA gene sequencing and Long read microbiome whole metagenome sequencing of pediatric GI samples.

  Dataset EGAD50000000483

• Single-cell RNA-seq of Bone marrow samples

  For two donors, we collected CD34 plus and CD34 minus hematopoietic cells for the single-cell RNA-seq analysis.

  Dataset EGAD50000000514

• WGS data for genomic determinants of response and resistance to inotuzumab in B-ALL

  Whole genome sequencing data for 45 samples with B-cell acute lymphoblastic leukemia

  Dataset EGAD50000000096

• WES data for genomic determinants of response and resistance to inotuzumab in B-ALL

  Whole exome sequencing data for 69 samples with B-cell acute lymphoblastic leukemia

  Dataset EGAD50000000097

• Data generated by the Drier Lab at HUJI

  This Data Access Committee is responsible to all data generated by and deposited by the Drier Lab at the Faculty of Medicine of the Hebrew University of Jerusalem (http://yotamdrier.ekmd.huji.ac.il/)

  Dac EGAC50000000060

• RNAseq data

  Bulk RNAseq data for IMbrave151 (N = 96), including raw counts, transcript per million (TPM), and voom transformed values.

  Dataset EGAD50000000568

• Policy to access RNAseq Patient Derived Sézary syndrome cells

  This is the policy for accessing the RNAseq raw data associated to the project 'Diverse transcriptomic and mutational patterns but limited functional pathway alterations in patient-derived SS cells'

  Dac EGAC50000000693

• DAC for "Drug Development against Tumor Microtube Networks in Glioblastoma"

  This is the DAC for the study "Drug Development against Tumor Microtube Networks in Glioblastoma" of Dirk C. Hoffmann, Dirk.Hoffmann@dkfz.de and Frank Winkler, Frank.Winkler@med.uni-heidelberg.de

  Dac EGAC50000000326

• WM-WES dataset

  We performed whole-exome sequencing on Bone-Marrow and Peripheral Blood samples from WM patients, including 9 patients with sequential samples.

  Dataset EGAD50000001776

• McGill Reproductive Genetics Data Access Committee

  Committee at RI-MUHC (Slim Lab) that reviews requests for controlled human genetic/phenotypic data generated in reproductive genetics/infertility studies. Ensures requests comply with participant consent, ethics approvals, and institutional policies.

  Dac EGAC50000000775

• Comprehansive analysis of somatic mutations and genetic variations with whole genome sequencing

  Indetification of stractural variations by using of long read whole genome sequencing data

  Study JGAS000516

• GLASS-NL shallow whole genome sequencing (sWGS) tumor samples

  Shallow whole genome sequencing (sWGS) of 227 initial and recurrent tumor samples from 105 patients in the GLASS-NL cohort.

  Dataset EGAD50000000581

• BAM files corresponding to PARN mutations identified in Hoyeraal-Hreidarsson syndrome patients

  PARN sequences of Patients 1 and 2 carrying mutatoins as decribed in Benyelles et al., EMBO Molecular Medicine 2019)

  Dataset EGAD00001005125

• NICHE - DNA-seq of MMR proficient and MMR deficient early stage colon cancers

  The dataset includes 174 FASTQ files from paired-end WXS sequencing on Illumina HiSeq2500 for 39 patients.

  Dataset EGAD00001006041

• CBD-RAW-CLINVAR: Clinical metadata

  Anonymised patient metadata and associated data dictionary. For further information regarding this dataset, please contact Alexander Mentzer at contact@combat.ox.ac.uk.

  Dataset EGAD00001007931

• Pharmacogenomics of T-ALL

  Whole exome seq (N=21) and RNA-seq (N=36) data of additional T-ALL

  Dataset EGAD00001006434

• RNA-seq data for HCC patients from Y90+Nivolumab trial

  This dataset includes RNA-seq fastq files of pre-treatment and on-treatment samples from 28 patients

  Dataset EGAD00001010132

• Metagenome Sequencing Data Cachexia Non-Cachexia

  120 samples of cachectic and non cachectic. 240 Fastq files from Illumina metagenomic shothun paired End Sequencing

  Dataset EGAD00001010279

• Tumor from individual with germline POLD1 L474P

  This dataset includes WXS sequencing for 1 tumor FFPE sample and adjacent normal tissue from the individual from one family member.

  Dataset EGAD00001009281

• Single Nuclei RNA sequencing batch 2

  This dataset includes the 2 extra normal samples adjacent to PTC tumors that were multiplexed and profiled using kits from different batches.

  Dataset EGAD00001011364

• Exome sequencing reads

  Exome sequencing reads of two UFM individuals and their family members (totally 11 individuals) belonging to two different Fragile X families. Alignment files in BAM format are provided.

  Dataset EGAD00001002276

• Exome sequencing of FFPE sample

  Bam file from exome sequencing of FFPE sample from Ly3 using SeqCap EZ Human Exome Library (Roche Nimblegen, Inc., WI, USA) and Illumina HiSeq2000 sequencer.

  Dataset EGAD00001004782

• Illumina Reads for patient with ataxia-pancytopenia syndrome.

  Illumina BAMs for a patient with ataxia-pancytopenia syndrome and both of their parents.

  Dataset EGAD00001005034

• Accelerated clonal evolution in refractory versus relapsed chronic lymphocytic leukemia upon treatment

  Identify and track clonal evolution of clones in consecutive human chronic lymphocytic leukemia samples identified by whole exome sequencing.

  Dataset EGAD00001005058

• Multiregional non-invasive genetic characterization of MM

  Genomic characterization (through whole-exome sequencing) of circulating tumor cells, bone marrow clonal plasma cells and extramedullary plasmacytomas from multiple myeloma patients.

  Dataset EGAD00001006028

• Melanoma exome profiling

  This dataset includes whole exome profiling of 65 early-passage metastatic melanoma cell lines. The data are provided as BAM files for tumor and normal samples.

  Dataset EGAD00001006271

• MDS MSC

  bam files, mapped to hg19 after dedup, recal, recalibration and clipping of overlapping redas

  Dataset EGAD00001006968

• Genotype-Tissue Expression (GTEx) (2025-07-28)

  Dual snRNAseq and ATACseq of replicate PBMC samples for 10X beta testing. . This dataset contains all the data available for this study on 2025-07-28.

  Dataset EGAD00001015663