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• MalariaGEN_Gambia-HLA_typing

  EGAS00001001311: Genome-wide study of resistance to severe malaria in eleven worldwide populations: Gambian trio HLA typing

  Dataset EGAD00010001818

• Widespread hypertranscription in aggressive human cancers

  Data used to validate RNAmp tool.

  Dataset EGAD00001009285

• mFAST-SeqS estimation of tumor fraction

  Modified Fast Aneuploidy Screening Test-Sequencing System (mFAST-SeqS) was applied to stratify samples based on their overall tumor fraction in cfDNA.

  Dataset EGAD00001006385

• Genetic-epigenetic tissue mapping for plasma DNA: applications in prenatal testing, transplantation and oncology

  We developed Genetic-Epigenetic Tissue Mapping (GETMap) to determine the tissue composition of plasma DNA carrying genetic variants not present in the constitutional genome through comparing their methylation profiles with relevant tissues.

  Dataset EGAD00001007041

• Genome Denmark Phase II - alignments

  Alignment of Genome Denmark Phase II dataset to GRCh38. The dataset consists of 150 Danish individuals (50 trios) sequenced to 80X. The BAM-file contains data from multiple libraries created from one individual with libraries of 180, 500, 800, 2000, 5000, 10000 and 20000 bp. The libraries were created using standard Illumina protocols for paired end reads (180-800bp libraries) and mate pair libraries (2kb-20kb).

  Dataset EGAD00001003157

• Detection of brain cancer using genome-wide cell-free DNA fragmentomes

  Diagnostic delays in patients with brain cancer are common and can impact patient outcome. Development of a blood-based assay for detection of brain cancers could accelerate brain cancer detection. In this study, we analyzed genome-wide cell-free (cfDNA) fragmentomes, including fragmentation profiles and repeat landscapes, from the plasma of individuals with (n=148) and without (n=357) brain cancer. Machine learning analyses of cfDNA fragmentome features detected brain cancer across all grade gliomas (AUC=0.90, 95% CI: 0.87-0.93) and these results were validated in an independent prospectively collected cohort. cfDNA fragmentome changes in patients with gliomas represented a combination of fragmentation profiles from glioma cells and altered white blood cell populations in the circulation. These analyses reveal the properties of cfDNA in patients with brain cancer and open new avenues for noninvasive detection of these individuals.

  Study EGAS50000000986

• cfDNA shallow Whole-Genome sequencing - expansion run

  cfDNA shallow Whole-Genome sequencing of the remaing patients with mTNBC in the TONIC trial, including 3 timepoints: baseline, week 6 and week 12. The week 6 data of the patients in the pilot run was sequenced here.

  Dataset EGAD50000001862

• A Phase I/IB Study of Ipilimumab or Nivolumab in Patients With Relapsed Hematologic Malignancies After Allogeneic Hematopoietic Cell Transplantation

  Relapse after allogeneic hematopoietic stem cell transplantation (HSCT) is characterized by poor outcomes and novel therapeutic options are urgently needed. Immune checkpoint blockade using CTLA-4 and PD-1 blocking antibodies are a potential concept for reinstating a dormant graft-versus-leukemia (GvL) effect.This study investigated transcriptomic changes in biopsies obtained from patients who received immune checkpoint blockade for relapsed hematologic malignancy post-HSCT and elucidated transcriptional programs associated with successful reinvigoration of GvL. Differential gene expression analysis showed evidence of increased T cell infiltration in biopsies of responders to ipilimumab treatment and demonstrated shared gene programs between GvL and GvHD.

  Study phs002377

• RNASeq of Calcoco2 in beta and fat cell lines

  Investigation of the function of Calcoco2 by knocking it down in beta and fat cell lines.

  Study EGAS00001006127

• CNV profile in HSP90 inhibitor resistant K562 cells

  Analysis of the acquired copy number profile in K562 cell which got resistant against HSP90 inhibitors.

  Study EGAS00001006385