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• Exome sequencing of stroke cases with good or bad recovery three months after stroke

  With the aim to identify rare genetic variation involved in stroke recovery, this is a pilot study on extreme phenotypes of good and bad recovery. Exome sequencing was performed on 41 and 49 samples in the bad and good recovery subset, respectively. Rare Variant association Analysis was performed on the exome sequencing results.

  Study EGAS00001003463

• Chromatin_accessability_in_cytokine_induced_immune_cell_states

  We isolated T cells and monocotyes from healthy platelet donors and cultured them in resting and stimulated conditions with addition of a range of cytokines. We performed ATAC sequencing to assess the chromatin accessability in different cytokines treated cells. These cellular profiles were used to map risk variants to the cytokine-induced cell states relevant for autoimmune diseases.

  Study EGAS00001003501

• Exome sequencing of patients with rare neurological disorders

  Exome sequencing of patients and their families with diverse rare neurological disorders. Some families have prior linkage data identifying a specific chromosomal interval or interest, other families do not have linkage data available. Many of these families come from special populations whose demography or preference for consanguineous marriages make them particularly tractable for genetic studies.

  Study EGAS00001000159

• DIPG RNA and exome sequencing

  DIPG is a paediatric high-grade glioma that diffusely infiltrates the brainstem and is the leading cause of paediatric brain tumour death. Here we performed RNA and whole exome sequencing on DIPG and control samples to analyse transcriptomic and genetic alterations associated with this devastating disease, and to understand the relationship between them.

  Study EGAS00001004749

• Exome sequencing of 102 gastric cancer and matched normal from Japanese cohorts (YCU)

  As a contribution to the International Cancer Genome Consortium, exome sequencing of 102 Japanese gastric cancer with various histological subtypes have been conducted. This study aims to identify unique and common driver genes and molecular subtypes in Japanese gastric cancer. Please refer ICGC website for detail: http://icgc.org/icgc/cgp/69/420/1012357

  Study EGAS00001002892

• Genomic landscape of inflammatory breast cancer by whole-genome sequencing

  Inflammatory breast cancer (IBC) is the most aggressive form of breast cancer, characterized by a highly invasive and metastatic phenotype, but little is known about its genetic drivers. Here we report whole-genome sequencing (WGS) of 20 newly diagnosed IBC biopsies to characterize for the first time the entire genomic landscape of this disease.

  Study EGAS00001004117

• Gene expression in brain (Schizophrenia) study

  The study included post-mortem brain tissue samples from 68 schizophrenia patients and 44 age and sex matched control subjects. Whole transcriptome poly-A selected paired-end RNA sequencing was performed on tissue from prefrontal cortex and orbitofrontal cortex. RNA expression differences were detected between case and control individuals, focusing both on single genes and pathways.

  Study EGAS00001004199

• Analysis of Complex Genomic Rearrangements of Lung Adenocarcinomas

  Lung adenocarcinomas (LADC) are heterogeneous disease with distinct etiology. A majority of tumors are related with tobacco smoking, and some tumors arise from never-smoking or young patients, whose clinical history do not support the environmental carcinogen-induced oncogenes. Here we analyzed complex rearrangements in lung adenocarcinomas including tumors with distinct etiologies.

  Study EGAS00001002801

• Defective mitophagy and enhanced oxidative stress dictate regulatory T cell impairment in autoimmunity

  Regulatory T cell (Treg) impairment is a common denominator of autoimmune pathologies. Despite the extensive characterization of Treg cell phenotype in autoimmunity, the molecular mechanisms underlying their deterioration remain ill defined. To investigate Treg dysfunction during autoimmunity we performed transcriptomic analysis of CD4+CD25highCD127- Treg cells from peripheral blood of patients with autoimmunity.

  Study EGAS00001004470

• Hydroxycarbamide effect on DNA methylation and gene expression in MPN patients

  Hydroxycarbamide (HC), is a cytoreductive drug frequently used to control cell blood counts in patients with myeloproliferative neoplasms (MPNs).To further explore the effects of HC in MPN patients, we performed DNA methylation and gene expression profiling of two differentially developed and clinically relevant cell types, both before and following HC exposure.

  Study EGAS00001004583