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• Capture Hi-C on Hodgkin lymphoma cell line L-428

  In situ promoter capture Hi-C on Hodgkin lymphoma cell line L-428 in experimental triplicates. Hi-C libraries were prepared as previously described (Orlando et al., 2018, https://currentprotocols.onlinelibrary.wiley.com/doi/pdf/10.1002/cphg.63). Promoter capture was based on 32,313 biotinylated 120-mer RNA baits (Agilent). Hi-C libraries were sequenced using Illumina HiSeq 2000 technology. The files are in FASTQ format.

  Study EGAS00001003032

• Skeletal muscle transcriptomic comparison between long-term trained and untrained men and women

  Published study: https://www.cell.com/cell-reports/fulltext/S2211-1247(20)30789-0 To investigate the influence of lifelong exercise training on human metabolism, we generated global skeletal muscle transcriptomic data from long-term endurance (9 men, 9 women) and strength (7 men) trained individuals. These data were compared with healthy age-matched untrained controls (7 men, 8 women).

  Study EGAS00001004367

• GEL WGS Comparison

  These samples are to be analysed with the CGP Developed cancer panel and the results will be compared with WGS data from 4 different comercial providers.

  Dataset EGAD00001000872

• Cell-Free DNA Fragmentation Distinguish Immunotherapy Responders from Non- Responders in Head and Neck Cancer: A Multi-Institute Prospective Study

  We performed whole-genome sequencing of 185 plasma cfDNA samples from 68 patients with head and neck squamous cell carcinoma (HNSCC) enrolled in a phase II clinical trial of neoadjuvant and adjuvant pembrolizumab. Using these data, we developed the regional motif diversity score (rMDS), a novel fragmentomic biomarker that predicts immunotherapy response and outperforms established cfDNA metrics.

  Study EGAS50000001286

• Whole genome sequencing informs treatment decision of end-stage metastatic cutaneous angiosarcoma in a patient with Xeroderma Pigmentosum

  Whole genome sequencing (WGS) detects all mutations in a cancer. “Mutational signatures” are patterns of mutations that report the DNA damage and subsequent DNA repair processes that have occurred in cancers. We present a patient with Xeroderma Pigmentosum that developed metastatic angiosarcoma, unresponsive to all lines of sarcoma therapy. Primary tumour WGS revealed a hypermutated tumour, including clonal ultraviolet light-induced mutational patterns (Signature 7) and subclonal signatures of activating mutations of DNA Polymerase-epsilon (POLE)(Signature 10). These signatures are associated with response to immune-checkpoint blockade. Immunohistochemistry confirmed high PD-L1 expression in metastatic deposits. The patient was commenced on anti-PD-L1 therapy and has responded.

  Dataset EGAD00001004786

• Pharmacogenomic profiling reveals molecular features of chemotherapy resistance in IDH wild type primary glioblastoma

  We stratified 69 primary IDH-wt GBM patients into TMZ-resistant (n = 29) and sensitive (n = 40) groups, using TMZ screening of the corresponding patient-derived glioma stem-like cells (GSCs). Genomic and transcriptomic features were then examined to identify TMZ-associated molecular alterations. Subsequently, we developed a machine learning (ML) model to predict TMZ response from combined signatures. Moreover, TMZ response in multisector samples (52 tumor sectors from 18 cases) was evaluated to validate findings and investigate the impact of intra-tumoral heterogeneity on TMZ efficacy.

  Dataset EGAD00001010156

• B-lineage cells in coeliac disease Data Access Committee

  The DAC will be made up of: Ida Lindeman ida.lindeman@medisin.uio.no (admin) Ludvig M. Sollid l.m.sollid@medisin.uio.no Rasmus Iversen rasmus.iversen@medisin.uio.no

  Dac EGAC50000000162

• University of Michigan ALS Biorepository

  We are collaborators at the University of Michigan (Ann Arbor, MI) studying amyotrophic lateral sclerosis (ALS), employing sequencing-based approaches (e.g. bulk RNA-seq of whole blood) in case-control studies.

  Dac EGAC50000000598

• Early ctDNA molecular response captures therapeutic response in the first stage of CCTG BR.36 ctDNA-directed, multi-center phase II study of molecular response adaptive immunotherapy in non-small cell lung cancer

  Study EGAS00001007298

• cfDNA shallow Whole-Genome sequencing - pilot run

  cfDNA shallow Whole-Genome sequencing from 30 patients with mTNBC in the TONIC trial, including 2 timepoints: baseline and week 12.

  Dataset EGAD50000001861

• Whole genome sequencing of intestinal metaplasia

  We generated whole genome sequencing data from 15 pairs of IM and matched normal. The dataset contains cram files from 30 samples.

  Dataset EGAD50000001539

• GLASS-NL whole exome sequencing (WES) tumor samples

  Whole exome sequencing (WES) data from 219 initial and recurrent tumor samples from 103 patients in the GLASS-NL trial.

  Dataset EGAD50000000583

• ADP

  ADP array data, comprised of 2217 samples of Asian ancestry (excluding the Japanese population from ADP). Samples were genotyped on different Illumina or Affy platform.

  Dataset EGAD00010001491

• Whole genome bisulfite sequencing to analyse the molecular response of AML blasts to Aza-treatment.

  Dataset EGAD00001007504

• Sex-biased patterns shaped the genetic history of Roma

  Whole mtDNA sequences and Y chromosomes from Roma and Non-Roma European samples.

  Study EGAS00001004207

• 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

• RNAseq data from Turner syndrome and controls

  RNAseq data from the study: "Widespread DNA hypomethylation and differential gene expression in Turner syndrome".

  Dataset EGAD00001003428

• TRACERx100 RNAseq

  TRACERx 100: RNAseq data from the first 100 TRACERx tumours (164 tumor regions from 64 patients)

  Dataset EGAD00001004591

• BC WGS Dataset 1

  Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells

  Dataset EGAD00001001350

• The Simons Genome Diversity Project: 300 genomes from 142 diverse populations

  Whole genome sequencing of 300 individuals from 142 diverse populations

  Dataset EGAD00001002721

• 4C-Seq datasets of EndoC-bh1

  2 Circular chromosome conformation capture (4C-Seq) datasets of the human beta cell line EndoC-bh1.

  Dataset EGAD00001005210

• Cord blood sequencing data

  SmMIP libraries using cord blood DNA were generated in replicates and were sequenced on the NovaSeq SP platform (Illumina)

  Dataset EGAD00001007789

• Unraveling the transcriptomic profile of utero-tubal lavage fluid of ovarian cancer patients

  mRNA capture seq of uterotubal lavage samples

  Dataset EGAD00001007933

• Histone modifications of cfDNA

  59 samples are sequenced, 18 are HCC and beta thalassemia cases while the remaining are control case.

  Dataset EGAD00001009267

• H3Africa EPIGEN Phenotype

  Phenotype data from pregnant mothers unexposed and exposed to the Rwandan genocide from 59 whole blood samples.

  Dataset EGAD00001009739