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• Clinical and molecular features of early onset pancreatic cancer

  A retrospective cohort study on the clinical and molecular features of early onset pancreatic cancers (i. e. diagnosed at <50 years old) in comparison with later onset tumors.

  Study EGAS50000000362

• Combined genetic and transcriptome analysis of patients with Systemic Lupus Erythematosus (SLE)

  A comprehensive profiling of the genomic architecture of Systemic Lupus Erythematosus (SLE) by combining genetic and transscriptomic analysis by RNA-seq.

  Study EGAS00001003662

• Combined single cell immunophenotyping and genotyping of adult low hypodiploid acute lymphoblastic leukemia

  This dataset includes the Fastq files from sequencing data generate from diagnostic and remission bone marrow mononuclear cell samples using the Mission Bio Tapestri Plateform with both DNA amplicons and protein from antibody-derived tags sequencing libraries.

  Dataset EGAD00001009763

• Whole genome sequencing data from whole genome amplified single cells and unamplified bulk samples

  The dataset includes paired end fastq files of whole genome sequencing data on the Illumina platfrom. Individual samples are multiple annealing and looping based amplified single fibroblasts and multiple displacement amplified single T lympocytes, including unamplified bulk samples.

  Dataset EGAD00001004195

• Bulk 3' mRNA-Sequencing of human ASC-derived kidney tubuloids

  Bulk 3' mRNA-Seq raw files (FASTQ) from human kidney tubuloids derived from 4 separate donors in collagen-based dome culture and suspension culture. Samples were collected for sequencing on day 7 of passage 3, 4, and 5. Total = 24 samples.

  Dataset EGAD50000002335

• 3D-GSC_expression_profiles

  In this study, we used RNA-sequencing gene expression profiling in order to characterize specific phenotypic traits in DIPG-derived glioma stem cell (GSC) models. Twenty-two primary GSC models derived from biopsies collected at diagnosis were cultured in an ECM-mimicking compound before for RNA extraction and subsequent rRNA-depletion and sequencing .

  Dataset EGAD00001011079

• Tam-seq of tumor samples for HGSOC copy-number signatures study

  This dataset contains targeted amplicon sequencing of DNA extracted from 300 samples of 142 patients (158 methanol-fixed relapse biopsies and 142 FFPE archival diagnostic tissues). Samples were sequenced on Illumina HiSeq 2500 and were aligned to human genome assembly GRCh37 (hg19)to produce 600 bam files (2 technical replicates per sample).

  Dataset EGAD00001004173

• MethylCap-seq based DNA methylation profiles of 65 glioblastoma and 5 non-tumoral tissues

  Data represent genome-wide DNA methylation profiles obtained by MethylCap-seq (Diagenode’s MethylCap-kit based purification followed by Illumina GAIIx sequencing), for 70 brain tissue samples, including 65 glioblastoma samples and 5 non-tumoral tissues (obtained from epilepsy surgery).

  Dataset EGAD00001001399

• Paired RNA-Seq of 32 samples of chemo-naïve and post-chemotherapy PDAC tumors

  Paired RNA-Seq of 32 samples of chemo-naïve and post-chemotherapy PDAC tumors (HIPO_015) to define the molecular and cellular impact of neoadjuvant chemotherapy. Transcriptome analysis combined with high resolution mapping of whole tissue sections identified GATA6 (Classical), KRT17 (Basal-like) and Cytochrome P450 3A (CYP3A) co-expressing cells that were preferentially enriched in post-CTX resected samples. The sequencing was done on HiSeq2000/HiSeq2500 using the Takara_SMARTer_Ultra_Low_Input_RNA_and_NEBNext_ChIP-Seq Kit.

  Dataset EGAD00001010884

• Targeted exome sequencing identify compound heterozygous TYK2 mutations in patients with primary immunodeficiency who developed EBV-associated lymphoma

  In this study, we evaluated 2 siblings with primary immunodeficiency who developed EBV-associated lymphoma. Immunophenotyping of PBMCs revealed that both patients had significant T cell lymphopenia characterized by low na?ve CD4+ T cell counts. To identify the causative genetic mutations in the patients, we performed targeted exome sequencing using the Illumina MiSeq on the patients and their parents. The results showed a novel compound heterozygous mutations in the gene encoding tyrosine kinase 2 (TYK2) in the patients.

  Study JGAS000098

• Whole transcriptome sequencing of C1498 cells.

  The dataset contains raw data (FASTQ) of whole transcriptome sequencing of C1498 cells (n=1 sample). Libraries were prepared with the Illumina Stranded Total RNA Prep with Ribo-Zero Plus kit (Illumina, San Diego, CA, USA) and and 100bp paired-end reads were generated on the NovaSeq 6000 Sequencing System (Illumina).

  Dataset EGAD50000002404

• GIST Comprehensive Cancer Panel

  DNA Sequencing of 864 genes from KiCS cancer panel. Multiple family members affected with multifocal GIST who underwent whole genome sequencing of the germline and tumor. Affected individuals with GIST harbored a germline variant found within exon 13 of the KIT gene, (c.1965T>G; p.Asn655Lys, p.N655K) and a variant in the MSR1 gene (c.877C>T; p.Arg293*, pR293X).

  Dataset EGAD50000000548

• 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.

  Study EGAS00001005826

• Exome sequencing in a consanguineous family with hypoaldosteronism identtifying LGR4 mutations

  The dataset contains whole exome sequencing of a family revealing a homozygous splice variant LGR4 gene rresponsible of salt wasting and adrenal zonation alteration. The members sequences were the proband with hypoaldosteronism , her parents and her two healthy brother in a consanguineous family.

  Dataset EGAD00001009761

• Brazilian GWAS Axiom850K Cancer Study

  Genome-wide genotyping data generated using the Affymetrix Axiom 850K PMDA Array from 2,844 Brazilian individuals enrolled in a cancer-focused biorepository. The dataset includes colorectal, breast, and cervical cancer cases as well as cancer-free controls. The data support genome-wide association studies (GWAS), replication analyses, and polygenic risk score evaluation in an admixed Brazilian population.

  Dataset EGAD00010002841

• DAC for Liquid CNA in High Grade Serous Ovarian Cancer

  Low pass sequencing of sequential cell free and tumour DNA with matched whole genome sequencing from five patients with high grade serous ovarian cancer presented in Hockings et al Cancer Research paper, 2025.

  Dac EGAC50000000648

• ST lobular manuscript dataset

  Spatial transcriptomics analysis for 43 breast cancer lobular samples. Note that there are 2 runs per sample Images and read counts will be made availalble on Zenodo upon publication.

  Dataset EGAD50000001467

• GCAT| SNParray coreSpain V3 TopMed

  4988 samples issued from GCAT cohort, genotyped with MEGAex-Infinium Array, with data for Cr1-23. Plink files with QC and imputed using TOPMed r2.

  Dataset EGAD00010002749

• Imputed_genetics

  Imputed genetic data for INTERVAL proteomics cohort

  Dataset EGAD00010001544

• Paired-end sequenced plasma DNA samples

  Merged file of low-coverage WGS from 179 plasma DNA samples from non-cancer controls and cancer patients for assessment of size distribution of plasma nuclear DNA fragments.

  Dataset EGAD00001002217

• RNA-sequencing of adult T-cell leukemia/lymphoma sample

  This dataset includes 10 RNA-sequencing (RNA-seq) data for 9 primary tumors and 1 cell line from adult T-cell leukemia/lymphoma (ATL).

  Dataset EGAD00001004937

• liCHi-C Samples of blood cell types

  Libraries of liCHi-C for 9 blood cell types (HSC, CMP, CLP, Ery, Mon, MK, nB, nCD4 and nCD8) with 2 biological replicates each. Fastq file format.

  Dataset EGAD00001008828

• ctDNA data

  ctDNA data for IMpower150, including individual mutation calls (one mutation per sample per line), sample list including ctDNA status (one sample per line), and patient-level ctDNA summaries called ctDNA features (one patient per line).

  Dataset EGAD00001009725

• RNA sequencing data of pediatric T-cell acute lymphoblastic leukemia (set 3)

  The dataset includes RNA sequencing FASTQ files from diagnostic tumor samples of two T-ALL patients (ALLK-126, ALLT-503). Two diagnostic samples of ALLT-503 were sequenced: one extracted from the bone marrow (ALLT-503D-RNA) and one from the lymph node (ALLT-503lympD-RNA). Novogene's internal method was used in directional library preparation including rRNA removal. The diagnostic tumor samples were sequenced using Illumina Novaseq X Plus, and the target sequencing depth was 21 Gb per sample.

  Dataset EGAD50000002586

• 1. Identidication of molecular biological mechanism associated with the development and prognosis of uterine cancer, uterine sarcoma, and endometrial hyperplasia / 2. Identification of molecular biological mechanism associated with the development of endometriosis and malignant transformation, ovarian cancer, fallopian tubal cancer, peritoneal cancer, and other malignant tumors in gynecological organs

  To identify molecular subtypes and carcinogenesis in clear cell ovarian carcinomas by whole-exome sequencing, RNA-sequencing, and methylation array, and to characterize high-grade serous carcinomas by NGS-based, integrative genomic analyses, with focus on homologous recombination deficiency, molecular subtypes and prognositic factors.

  Study JGAS000560