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• Mutational landscape of renal cell carcinoma with venous tumor thrombus

  Renal cell carcinoma with venous tumor thrombus opens the unique opportunity to investigate the clonal evolution of a tumor in two fundamentally different compartments i.e., within the confinement of an organ and inside a large blood vessel. We performed multiregion whole exome sequencing of a total of 37 samples from five consecutive patients (normal tissue, n=5; primary tumors, n=16; tumor thrombi, n=16) to >35-fold target coverage. Four patients had a clear cell RCC, one patient had a poorly differentiated type II papillary RCC (RCC-VTT-04). The latter patient had a friable thrombus, the others were of solid consistency.

  Study EGAS00001001950

• Mutational signatures in head and neck cancer (H019)

  Genomic alterations are a driving force in the multistep process of head and neck cancer (HNC) and result from the interaction of exogenous environmental exposures and endogenous cellular processes. Each of these processes leaves a characteristic pattern of mutations on the tumor genome providing the unique opportunity to decipher specific signatures of mutational processes operative during HNC pathogenesis and to address their prognostic value. Computational analysis of whole exome sequencing data of the HIPO-HNC (n=83) and TCGA-HNSC (n=506) cohorts revealed five common mutational signatures (COSMIC signature 1, 2, 3, 13 and 16), and demonstrated their significant association with etiological risk factors (tobacco, alcohol and HPV16).

  Study EGAS00001004588

• The Genetic Analysis of multiple sclerosis

  We created these data in order to identify genetic variants associated with increased susceptibility to multiple sclerosis. Cases from many parts of the world were genotyped with the Illumina 660 chip along with Swedish controls. In our analysis we also used control data from the WTCCC2 common UK controls and from other published studies.

  Study EGAS00000000101

• A brain precursor atlas reveals the acquisition of developmental-like states in adult cerebral tumours

  We generated a single-cell RNA-seq atlas capturing over 100,000 cells spanning all stages of the mouse cerebral development. By examining data from over 100 cerebral tumour samples, our study reveals that, despite the phenotypic/genotypic differences between the tumour types, they are all comprised of developmental sublineages that map most closely to embryonic or juvenile stages of development.

  Study EGAS00001006237

• Dac for "Molecularly matched targeted therapies plus radiotherapy in patients with newly diagnosed glioblastoma without MGMT promoter hypermethylation (N2M2/NOA-20 phase I/IIa umbrella trial)" with PD Dr. med. Tobias Kessler, t.kessler@dkfz.de/ Prof. Dr. med. Wolfgang Wick, wolfgang.wick@med.uni-heidelberg.de

  Dac EGAC00001003521

• 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

• Validation of a genome-wide polygenic score for body mass index in South Asians

  Genotyping data of BMI model markers generated using Global Screening Array (Illumina Inc.)

  Study EGAS00001008309

• Multimodal epigenetic sequencing analysis for colon cancer

  Targeted methylation sequencing (enzymatic conversion) data of plasma samples collected from colon cancer patients and non-cancer subjects.

  Study EGAS50000000052

• Hypoxia and plasma treatment of glioblastoma organoids

  RNA sequencing of organoids derived from human glioblastoma subject to hypoxia, plasma, or a combination of both for 72h, sampled at 0, 24, 72, and 144h.

  Dataset EGAD50000002081

• 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

• UMI-4C in LCLs derived from constitutional MLH1 epimutation carriers and non-carrier relatives

  UMI-4C sequencing data generated for MLH1 promoter to assess allele-specific interactions in LCLs derived from constitutional MLH1 epimutation carriers and non-carrier relatives

  Dataset EGAD50000000713

• Multi time/space shallow whole genome sequencing of esophageal adenocarcinoma's

  Shallow whole genome sequencing of 170 samples from 24 esophageal adenocarcinoma's. DNA was obtained from FFPE stored material. Illumna Hiseq 400 was used for sequencing.

  Dataset EGAD50000000318

• 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

• uganda_X

  Genotype data (in binary PLINK format) and imputed data (with merged 1000Gp3 and AGVP reference panel in GEMMA BIMBAM dosage format) for 1391 individuals from EMaBS in Entebbe, Uganda - X chromosome.

  Dataset EGAD00010002583

• P50_P76_P763_DAC_DMSO_24h_48h_72h_Illumina_HT12v4_Gene_Expression.xlsx

  Expression dataset for DAC treated CD34 sorted primary CML bone marrow samples

  Dataset EGAD00010002211

• Imputed_genetics

  Imputed genetic data for INTERVAL proteomics cohort

  Dataset EGAD00010001544

• EGAS00001001311_MalariaGEN_GWAS_summary_statistics_2015

  Summary statistics for Malaria Genomic Epidemiology Network, "A novel locus of resistance to severe malaria in a region of ancient balancing selection", Nature (2015)

  Dataset EGAD00010001081

• RNAseq of 25 sarcoma samples

  100 bp paired-end fastq RNAseq files for 25 sarcoma samples. RNAseq data from exon capture library prep.

  Dataset EGAD00001010839

• 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

• Patient TSO500 RNA

  Original patient tumours from which PDX models were derived. TruSight Oncology RNA panel for 2 samples, sequenced over 4 lanes each, gave 8 pairs of fastq files

  Dataset EGAD00001009659

• 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

• Whole exome sequencing of Belvarafenib resistant IPC-298 clones

  Whole Exome Sequencing of Belvarafenib resistant IPC-298 clones after treatment for 3-4 weeks with 10uM belvarafenib

  Dataset EGAD00001007062

• Vitiligo exome sequencing

  Exome sequencing data for 14 Vitiligo samples

  Dataset EGAD00001006371

• MiSeq-Low Coverage

  Fourteen files of patients 1, 2, 4, 6, 7, 8, 9, 12, 14, 16, 17, 18, 19 and 27 with WGS done on Illumina MiSeq with low coverage. For research purpose and authorised user only.

  Dataset EGAD00001003437

• 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