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Showing result 1 - 5 of 8 swedish dissertations matching the above criteria.
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1. SNP based strategies to study candidate genes for Alzheimer’s disease
Abstract : Alzheimer’s disease (AD) is the most common form of dementia in the elderly. It is a genetically heterogeneous disease characterized by progressive cognitive decline and memory impairment. The rare familial form of AD is caused by three different genes called APP, PSEN1 and PSEN2. READ MORE
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2. Gene and pathway associations in neurodevelopmental disorders
Abstract : Neurodevelopmental disorders are complex and heterogenous disorders affecting brain development. In this thesis, we study intellectual disability (ID) and schizophrenia, and we applied genomic, transcriptomic, and proteomic techniques to identify and further investigate candidate variants and important genes and pathways involved in pathology of these two disorders. READ MORE
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3. Sequence based analysis of neurodevelopmental disorders
Abstract : In this thesis the main focus is the use of methods and applications of next generation sequencing in order to study three of the most common neurodevelopmental disorders: intellectual disability, epilepsy and schizophrenia. A large fraction of the genes in our genome produce several distinct transcript isoforms through the process of splicing and there is an increasing amount of evidence pinpointing mutations affecting splicing as a mechanism of disease. READ MORE
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4. Targeted Long-read Sequencing : Development and Applications in Medical Genetics
Abstract : Targeted sequencing has the advantage of providing pinpointed DNA information, while costs and data-analysis efforts are reduced. If targeted sequencing is combined with single molecule long-read sequencing, it can become a powerful tool to investigate genomic regions traditionally difficult using the predominantly used short-read sequencing platforms, including repetitive regions and large structural variants. READ MORE
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5. Exploring human variations by droplet barcoding
Abstract : Biological variations are being explored at ever-increasing rates through the rapid advancement of analytical techniques. Techniques like massively parallel sequencing empower scientists to accurately differentiate individuals’ genetic compositions, cellular functionalities, and healthy tissue from diseased. READ MORE