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Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals with pathogenic BRCA1 or BRCA2 variants remains relatively unknown. We conducted the largest genome-wide analysis of CNVs in 15,342 BRCA1 and 10,740 BRCA2 pathogenic variant carriers. We used these results to prioritise a candidate breast cancer risk-modifier gene for laboratory analysis and biolog

Transition Matrix in Characteristic Modes Theory

This abstract presents the versatility and computational effectiveness of characteristic mode decomposition based on the transition matrix. The described treatment is valid for all lossless and linear material distributions and is independent of the numerical method used to resolve a particular scattering scenario.

ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma

Glaucoma is a leading cause of blindness. Current glaucoma medications work by lowering intraocular pressure (IOP), a risk factor for glaucoma, but most treatments do not directly target the pathological changes leading to increased IOP, which can manifest as medication resistance as disease progresses. To identify physiological modulators of IOP, we performed genome- and exome-wide association an