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• Frequent germline mutations of HAVCR2 in sporadic subcutaneous panniculitis-like T-cell lymphoma.

  Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare subtype of peripheral T-cell lymphoma affecting younger cases and associated with hemophagocytic lymphohistiocytosis. To clarify the molecular pathogenesis of SPTCL, we analyzed paired tumor and germline DNAs from 13 patients by whole exome sequencing.

  Dataset EGAD00001004795

• Exome Sequencing of Spanish Patients with rare genetic diseases.

  Whole Exome sequencing of a set of Spanish patients suffering rare genetic diseases. The set consists of 3 patients, two were diagnosed with Aniridia (ANI-0006 and ANI-0023) and another one was diagnosed with Retinitis Pigmentosa (RP-0247).

  Dataset EGAD00001005498

• WES_localized non-small cell lung cancer (540 samples)_MDACC

  Whole exome sequencing of tumors and paired adjacent uninvolved tissues from 222 early stage NSCLC patients, in order to identify genomic drivers present in early-stage non-small cell lung cancer and determine the overall tumor mutational burden in early-stage non-small cell lung cancer.

  Dataset EGAD00001005956

• Gene regulation of human CD4+ Treg ChM-seq

  This dataset maps gene expression regulation in human primary regulatory CD4+ T cells (Tregs). It includes whole genome sequence data for ChM-seq (118 H3K4me3, 118 H3K27ac and 6 inputs). The final quality filtered set included 91 individuals with H3K27ac ChM-seq and 88 with H3K4me3 ChM-seq.

  Dataset EGAD00001004828

• Whole exome sequencing analysis on patient-derived cervical cancer tissues and respective tumoroids

  Whole exome sequencing (WES) was performed on the matched tumor and organoid pairs from 7 cervical cancer patients. The DNA was sequenced on NovaSeq6000 platform with 8Gb sequencing coverage. WES data was mapped against human reference genome GRCh38 by using BWA (v0.7.5) mapping tool.

  Dataset EGAD00001006166

• RNAseq data from NEN patient derived tumor organoids (PDTOs) and matched parental tumors - SA

  The dataset includes fastq files from 2 LCNEC tumors and matched PDTOs. The sequencing was done with either a Nextseq 2000 or a NovaSeq 6000 instrument.

  Dataset EGAD00001009993

• Islet RFX6 Study Manuscript Data

  This submission includes raw FASTQ files (for bulk RNA-seq and 10X joint snATAC+snRNA multiome profiling experiments), sample phenotype files, and genotypes for the data included in the manuscript.

  Dataset EGAD00001008777

• RNAseq of neuroblastoma PDX and cell lines

  This dataset contains 72 RNAseq (BAM and Fastq files are available for each sample).

  Dataset EGAD00001006558

• Hi-C sequencing from a variety of pediatric brain tumors

  Hi-C (n=72) data from a variety of pediatric brain tumors including ependymoma (PFA, PFB, Ste, spinal), medulloblastoma (G3, G4, SHH), high grade glioma (H3K27 and H3-WT), pilocytic astrocytoma, and more. Raw data provided as FASTQ. Data generated on Illumina HiSeq2500.

  Dataset EGAD00001007914

• EPITREAT pilot cohort

  Benchmark data set containing five tumor/normal pairs of non-small cell lung cancer (NSCLC) patients. Tissue pairs were screened with bisulfite (BS) sequencing, MeDIP methylation enrichment sequencing and RNA sequencing in order to identify differentially methylated and expressed spots in the genomes.

  Dataset EGAD00001003116