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Looking beyond the standard genome-wide association study: Biologically-motivated methodological approaches to discover novel genetic variants associated with complex human traits and diseaseDownload
The standard approach for testing associations between common single nucleotide genetic variants (referred to as single nucleotide polymorphisms or SNPs) and disease entails testing disease associations for each SNP in the genome individually. This “hypothesis-free” approach has identified...
Von Willebrand Factor (VWF) is a pro-coagulant, glycosylated protein that is exclusively expressed in endothelial cells and megakaryocytes. An acute phase protein, VWF is upregulated or released from activated or injured endothelial cells. In addition, it is a carrier for factor VIII that...
Malignant glioma (MG), comprised of grade III (anaplastic astrocytoma) and grade IV (glioblastoma) astrocytoma, is the most common adult brain tumour, with an incidence of ~4 in 100 000 people. Despite aggressive treatment with surgery, radiation, and chemotherapy, survival remains dismal, with...
If all cells in a multicellular organism contain exactly the same genetic information, the question arises of how tissue types with distinct gene expression profiles are formed and maintained over the life of the organism. These different temporal and spatial gene expression patterns are thought...