Publication: Utilizing Genetic Linkage and Rare Variant Association Studies to Unravel Novel Disease Etiologies
Utilizing Genetic Linkage and Rare Variant Association Studies to Unravel Novel Disease Etiologies
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Cabello Ferrete, E. M. (2024). Utilizing Genetic Linkage and Rare Variant Association Studies to Unravel Novel Disease Etiologies. (Dissertation, University of Zurich) https://doi.org/10.5167/uzh-257321
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This thesis aims to use bioinformatic approaches to elucidate the underlying genetic causes of three different diseases. Our studies are mostly based on novel sequencing technologies (Chapter 1) and samples from patients diagnosed at the Institute of Medical Genetics and the Moyamoya Center at the Pediatric University Hospital in Zürich. In Chapter 2, we study Moyamoya angiopathy (MMA), a condition characterized by stenosis of the aortal carotid of the patients and occlusion of cerebral arteries, the main cause of ischemic and hemorrh
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Cabello Ferrete, E. M. (2024). Utilizing Genetic Linkage and Rare Variant Association Studies to Unravel Novel Disease Etiologies. (Dissertation, University of Zurich) https://doi.org/10.5167/uzh-257321
