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• Methylation profiling of CDS and ES tumor samples

  Methylation profiling of 9 CDS and ES tumor samples, using the approach described in "Patient-derived tumoroids from CIC::DUX4 rearranged sarcoma identify MCL1 as a therapeutic target

  Dataset EGAD00010002760

• Normal pancreas cells cohort

  Mixed exocrine and purified ductal and de-differentiated acinar human cells obtained from normal pancreases. Ductal and de-differentiatedacinar cells where isolated by FACS after 4 days culture of the exocrine mixed population

  Dataset EGAD00010002007

• Association of DNA-methylation profiles with immune responses in breast cancer patients

  Genome-wide DNA methylation profiling of genomic DNA isolated from blood PBMCs of breat cancer patients before the start of therapy.

  Dataset EGAD00010001854

• Identifying the role of ID3 in DNA repair and maintenance of genome integrity (RNA-seq)

  Dataset EGAD00001008198

• EGAD00000000056

  WTCCC project samples from the primary biliary cirrhosis cohort

  Dataset EGAD00000000056

• Whole-genome data from a high-density melanoma family

  This dataset contains whole-genome sequence data from individuals in a high-density melanoma family. Sequences were aligned againt the human reference genome HG19 using BWA.

  Dataset EGAD50000002154

• Microbial infections in Alzheimer’s patients

  In the present study, we have examined fungal and bacterial infection in brain tissue from 10 AD patients and 16 control subjects by next-generation sequencing NGS using MiSeq sequencing platform (Illumina).

  Dataset EGAD00001003886

• Genetic factors underlying premature coronary heart disease in patients with normal coronary arteries

  The study will analyse by exome sequencing 42 Greek patients with premature MI and no vessel disease to identify genetic factors underlying this condition.

  Dataset EGAD00001000402

• The genetic evolution of precursor lesions in pancreatic cancer

  Mapping genetic evolution of pancreatic cancer precursor lesions such as IPMNs and PanINs.

  Dataset EGAD00001002232

• Somatic genetic basis of Wilms' tumour

  We investigated the somatic genetic basis of Wilms' tumour and found complex phylogenetic relations between tumours

  Dataset EGAD00001005136

• Ovarian cancer organoid biobank - followup

  WGS of more samples in the ovarian cancer organoid biobank dataset.

  Dataset EGAD00001005707

• Whole exome sequence of intratumor heterogeneity study

  This dataset contains whole exome sequence data from 86 samples from 6 patient. All the experiments were performed on Illumina HiSeq platform with raw reads stored in fastq format.

  Dataset EGAD00001005453

• OSCC WES and genomes

  WES (N=18) and WGS (N=2) of OSCC tumors and normals with the aim of identifying novel mutational signatures in Asian tumors

  Dataset EGAD00001006077

• Accurate mapping of mitochondrial DNA deletions and duplications using deep sequencing

  The dataset comprises of muscle samples from three patients with mitochondrial disease: Patient 1, age9; Patient 2, age16; and Patient 3, age 58.

  Dataset EGAD00001006079

• 666PG indels

  Indel calls generated using Pindel in VCF format from the CPCGene 666PG study

  Dataset EGAD00001006147

• 666PG SNVs

  SNV calls generated using SomaticSniper in VCF format from the CPCGene 666PG study

  Dataset EGAD00001006148

• Macrophage response in term and preterm infants

  The data set comprises 48 samples from term and preterm infants. Expression profiles were generated using different stimuli (O2 3%, 21%, 65%; LPS stimulation).

  Dataset EGAD00001006885

• GCAT| WGS VCF QC Genotype V1

  This dataset contains genotypes (35.4M of SNVs, Indels and SVs), from 785 samples, after QC filtering, from the 808 WGS GCAT cohort.

  Dataset EGAD00001007774

• 666PG Somatic CNA calls

  Filtered somatic CNA calls detected using Battenberg from the CPCGGene 666PG study

  Dataset EGAD00001007699

• Germline WES data of pediatric cancer patients

  This dataset includes bam files (aligned to hg38) from the germline of pediatric cancer patients.

  Dataset EGAD00001008763

• RAD21-ChIP-Seq of cohesin-mutated and wildtpye adult AMLs

  ChIP-Seq targeting the major cohesin core subunit RAD21 to represent cohesin occupancy and binding sites in cohesin-mutated (STA2 or RAD21 mutations) and wildtpye adult AMLs.

  Dataset EGAD00001011199

• The University of Hong Kong Intestinal Metaplasia Organoids Study RNASeq Data

  RNASeq data generated from organoid cultures established from normal gastrointestinal organoids, long-term and paired tumor frozen tissues.

  Dataset EGAD00001015421

• Contribution of specific cell types to the development of Barrett’s esophagus and carcinoma via germline genetic risk

  We sought to elucidate how individual cell types in Barrett’s esophagus (BE) and esophageal adenocarcinoma (EAC) contribute to disease development via germline genetic risk.

  Dac EGAC50000000235

• Genetic architecture of microRNA expression and its link to complex diseases in the Japanese population

  We mapped microRNA expression quantitative trait loci by quantifying microRNA expression using small RNA sequencing.

  Study JGAS000504

• Whole genome sequencing data of relapsed paediatric KMT2A-rearranged acute lymphoblastic leukemia

  Bam-file of the one replased KMT2A-r case. Diagnostic (ALLT-375D) and remission (ALLT-375R) samples can be found from EGA submission EGAD50000001568.

  Dataset EGAD50000001593

• Whole-exome sequencing of acute myeloid leukemias with aberrations of chromosome 7

  This dataset contains the bam files of 60 paired samples of AML and remission samples.

  Dataset EGAD50000000621

• L1-Architect Project Dataset

  Tumours with high and ultrahigh rates of somatic retrotransposition studied in the publication by Zumalave et al. titled Synchronous L1 retrotransposition events promote chromosomal crossover early in human tumorigenesis

  Dataset EGAD50000000607

• Structural variants

  Structural variants assessed in 6 patient samples with varying phenotypes, through the use of sniffles2 with a support parameter of 1 and at a length of 30 bp

  Dataset EGAD50000000741

• Longitudinal 3'RNA-Seq data from MEMORI trial

  80 bam files generated from 3'RNAseq of tumour biopsies from oesophageal adenocarcinoma. Samples were collected within the clinical MEMORI trial.

  Dataset EGAD50000000357

• N2M2 methylation array data

  Methylation profiling of 228 samples, using the approach described in "Molecularly matched targeted therapies plus radiotherapy in patients with newly diagnosed glioblastoma without MGMT promoter hypermethylation (N2M2/NOA-20 phase I/IIa umbrella trial)"

  Dataset EGAD00010002747

• Average_hypermethylation_TF_sites

  Average hypermethylation on transcription factor binding sites based on nanopolish calls; only positions showing higher methylation than sample’s average methylation at enhancers were included when defining the average methylation level. Data from 6 individuals at different time points.

  Dataset EGAD00010002411

• Methylation array data of thymic epithelial tumors (TC, NET, THYM)

  Methylation microarray data (Illumina 850K) of 52 thymic epithelial tumors. 13 patients with thymoma A and B, 32 thymic carcinoma (TC) and 7 neuroendocrine tumors of the thymus (NET).

  Dataset EGAD00010002355

• Identifying the role of ID3 in DNA repair and maintenance of genome integrity (ATAC-seq)

  Dataset EGAD00001008199

• PEARL-CF Study Metagenomic Sequencing Data

  Metagenomic sequencing of 1030 stool samples from 70 children with cystic fibrosis (37 on probiotic and 33 on placebo) and 67 healthy controls from the PEARL-CF Study.

  Dataset EGAD50000002694

• RNAseq of LC2AD with AD80 or DMSO

  RNAseq of LC2AD with AD80 or DMSO Plenker et al., Mechanistic insight into RET kinase inhibitors targeting the DFG-out conformation in RET-rearranged cancer

  Dataset EGAD00001003316

• Homologous recombination deficient breast cancers

  Exome sequencing data from homologous recombination deficient primary breast cancers as assessed by the functional RAD51 based HR test. There are 12 tumour samples, of which 10 also have matching normal.

  Dataset EGAD00001003929

• Breast RNA Sequencing

  We propose to definitively characterise the somatic genetics of breast cancer through generation of comprehensive catalogues of somatic mutations in breast cancer cases by high coverage genome sequencing coupled with integrated transcriptomic and methylation analyses.

  Dataset EGAD00001001340

• BASIS RNA Sequencing

  We propose to definitively characterise the somatic genetics of breast cancer through generation of comprehensive catalogues of somatic mutations in breast cancer cases by high coverage genome sequencing coupled with integrated transcriptomic and methylation analyses.

  Dataset EGAD00001001341

• BASIS WGBS

  Whole-genome bisulfite sequencing (WGBS) on 30 breast cancer cases from the BASIS project.

  Dataset EGAD00001001388

• Recurrent somatic JAK-STAT mutations within a RUNX1-mutated pedigree

  Whole-exome sequencing of a RUNX1-mutated pedigree, including samples from mother, father and four offsprings. Recurrent somatic JAK-STAT mutations were found among the diseased individuals.

  Dataset EGAD00001002240

• Infant HGG targeted sequencing

  Targeted sequencing of infant high grade gliomas. BAM files of paired end reads aligned to GRCh37 with bwa. This targeted panel covers the exons of 435 genes commonly mutated in high grade gliomas in children.

  Dataset EGAD00001005248

• Ovarian cancer sequencing dataset

  Sequencing data from patients with Ovarian cancer. Data utilised in the 'Enhanced detection of circulating tumor DNA by fragment size analysis' manuscript (Mouliere et al, 2018)

  Dataset EGAD00001004939

• Somatic genetic basis of Wilms' tumour

  We investigated the somatic genetic basis of Wilms' tumour and found complex phylogenetic relations between tumours

  Dataset EGAD00001005135

• APCDR Uganda GWAS - High depth sequencing of a Baganda trio

  A family trio from Uganda (Baganda ethno-linguistic group) has been sequenced to high depth (ca. 30x) on the Illumina HiSeq 2500 platform.

  Dataset EGAD00001005346

• Human tumour bulk RNA-seq

  We profiled 18 high-grade gliomas patient tumor samples by bulk RNA-seq. The raw fastqs are provided.

  Dataset EGAD00001006098

• 666PG genomic rearrangements

  Genomic rearrangement calls generated using Delly in VCF format from the CPCGene 666PG study

  Dataset EGAD00001006146

• ATAC-seq of spermatogonia

  Raw sequencing reads of ATAC-seq of spermatogonia in FASTQ format, comprising 6 samples sequenced on the Illumina HiSeq 4000 platform.

  Dataset EGAD00001007759

• Cell line sequencing data

  SmMIP libraries using bulk cell line DNA and DNA mixes were generated in replicates and were sequenced on the NovaSeq SP platform (Illumina)

  Dataset EGAD00001007790

• GCAT| WGS VCF Raw Genotypes V1

  This dataset contains raw genotypes ( SNVs, Indels and SVs), from 785 samples,without applying any filter, from the 808 WGS GCAT cohort.

  Dataset EGAD00001008210

• CBD-KEY-SUMMARIES: Other data

  Other raw and processed phenotype data generated by the COMBAT consortium.

  Dataset EGAD00001008009