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• Kinomics data

  To ellucidate protein activity in mRCC, Kinomics data was generated as part of the EuroTarget study

  Dataset EGAD50000002293

• Study of PD-1 negative CD8 effector T-cells in advanced HCC with single-cell sequencing

  Study EGAS00001007547

• Neurodegenerative_TGS

  An investigation of clonal haematopoiesis in patients with neurodegenerative disease.

  Dataset EGAD00001006392

• Dundee Metformin response GWAS Phenotype 2016

  Variation in the Glucose Transporter gene SLC2A2 is associated with glycaemic response to metformin

  Dataset EGAD00001002277

• Accelerated single cell seeding in relapsed multiple myeloma

  25 Whole genome sequencing data cases

  Dataset EGAD00001006119

• Bacteria Lateral sclerosis

  The study aims to find bacteria in neural tissue from patients with amyotrophic lateral sclerosis

  Dataset EGAD00001004458

• Belgian epilepsy patients

  The genomic sequence of brain expressed miRNA genes was sequenced in Belgian epilepsy patients.

  Dataset EGAD00001001851

• Swedish schizophrenia patients

  The genomic sequence of brain expressed miRNA genes was sequenced in Swedish schizophrenia patients

  Dataset EGAD00001001849

• 3.5KJPNv2, an allele frequency panel of 3,552 Japanese individuals

  In the Tohoku Medical Megabank Project, we have conducted whole-genome sequencing of nearly 4,000 individuals from a Japanese population, and constructed an allele frequency panel of 3,552 individuals (3.5KJPNv2) after removing genetically related individuals. The 3.5KJPNv2 was constructed by using a standard pipeline including the 1KGP and gnomAD algorithms to reduce technical biases and to allow comparisons to other populations. The 3.5KJPNv2 includes variants in chromosome X and mitochondrial genome as well as autosome. The submitter has changed the access level of this study from controlled-access [Type I] to un-restricted access since 11th, January, 2019. The un-restricted access data ?hum0015.v3.3.5kjpnv2.v1? are available at the NBDC site: https://humandbs.biosciencedbc.jp/en/hum0015-v3. This study does not contain any controlled-access dataset.

  Study JGAS000159

• Whole Genome Sequencing of Liver Cancers

  Genomic alterations driving tumorigenesis result from the interaction of environmental exposures and endogeneous cellular processes. With a diversity of risk factors including viral infection, carcinogenic exposures and metabolic diseases, liver cancer is an ideal model to study these interactions. Whole genome sequencing of liver tumors identified 10 mutational signatures showing distinct relationships with environmental exposures, replication and transcription. Transcription-coupled damage was specifically associated with the liver-specific signature 16 and alcohol intake. Flood of indels were identified in very highly expressed hepato-specific genes, likely resulting from replication-transcription collisions. Reconstruction of sub-clonal architecture revealed mutational signature evolution during tumor development exemplified by the vanishing of aflatoxin-B1 signature in African migrants. These findings shed new light on the natural history of liver cancers

  Study EGAS00001002408