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• BASIS Genome Validation Study

  Bespoke validation experiments will be performed on ER+ Breast Cancer cases to confirm the presence of mutations found in whole genome sequencing.

  Dataset EGAD00001000661

• 300-Obese cohort gut microbiome data

  300-Obese cohort, Nijmegen, the Netherlands. Dataset contains gut microbiome data generated by metagenomic sequencing.

  Dataset EGAD00001005083

• GWAS_HPI_Lund

  Genotyping data (Imputed) from human pancreatic islets from 191 donors from Lund that were analysed as part of the Inspire consortium.

  Dataset EGAD00001005521

• Plasma methylome of metastatic prostate cancer

  The dataset contains plasma DNA methylation data derived from metastatic prostate cancer patients.

  Dataset EGAD00001005433

• Covacta OLINK LOD

  Explore 1536 dataset from serum of patients enrolled in the COVACTA trial. This dataset includes limit of detection values provided by Olink.

  Dataset EGAD00001011161

• Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity

  Targeted genetic sequencing was performed on a 41-year-old female with metaplastic breast cancer (MBC) and neurofibromatosis type I (NF1). A custom panel capturing 279 cancer related genes was used to identify a germline pathogenic SNV in NF1, as well several other somatic alterations.

  Study phs001566

• Single-cell RNA-seq, single-cell TCR-seq, single-cell ATAC-seq, and CITE-seq of human tonsillar CD4+ T cells

  To describe human tonsillar CD4+ T cells, especially IL10+ Foxp3- follicular CD4+ T cells (Tfr1, T follicular regulatory type 1), human tonsillar CD4+ T cells were analyzed with single-cell RNA-seq, single-cell TCR-seq, single-cell ATAC-seq, and CITE-seq.

  Study JGAS000805

• 41 fibroblast RNAseq samples of pediatric patients with childhood epilepsy and developmental delay

  We used RNA sequencing of patient fibroblasts to find a genetic diagnosis in patients with exome-negative childhood epilepsy. RNA extracted from 41 individuals' cultured fibroblasts (passage 3-6) was collected and sequenced at a depth of 90-110 paired reads per sample.

  Study EGAS50000000792

• Enhanced reduced representation bisulfite sequencing (eRRBS) on 45 multiple myeloma samples and 3 normal plasma cell

  Enhanced reduced representation bisulfite sequencing (eRRBS) on 45 multiple myeloma samples and 3 normal plasma cell. Enhanced reduced representation bisulfite sequencing (eRRBS) on 45 multiple myeloma samples and 3 normal plasma cell. Libraries were sequenced on a HiSeqTM4000 Illumina machine using 75bp paired-end reads

  Dataset EGAD00001007822

• Whole exome sequencing of paired primary tumor (PT) and hepatic metastasis (HM) of PDAC

  This data set contains pair-end raw whole exome sequencing data of matched primary tumors (PT) and hepatic metastases (HM) of pancreatic ductal adenocarcinoma (PDAC). Eight tumor adjacent normal tissues (N) were also evaluated. In total, there are 30 specimens generated from 11 PDAC cases, including 8 PT-HM-N trios and 3 PT-HM paires.

  Dataset EGAD00001006599