Sökning: "Lars Feuk"

Visar resultat 1 - 5 av 9 avhandlingar innehållade orden Lars Feuk.

  1. 1. SNP based strategies to study candidate genes for Alzheimer’s disease

    Författare :Lars Feuk; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Alzheimer s disease; complex disease; SNP; polymorphism; association study; genotyping; DASH;

    Sammanfattning : 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. LÄS MER

  3. 2. Gene and pathway associations in neurodevelopmental disorders

    Författare :Mitra Etemadikhah; Lars Feuk; Kristiina Tammimies; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Gene expression analyses; Neurodevelopmental disorders; Intellectual disability; Schizophrenia;

    Sammanfattning : 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. LÄS MER

  4. 3. Sequence based analysis of neurodevelopmental disorders

    Författare :Jonatan Halvardson; Lars Feuk; Alexandre Reymond; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Medical Genetics; Medicinsk genetik;

    Sammanfattning : 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. LÄS MER

  5. 4. Targeted Long-read Sequencing : Development and Applications in Medical Genetics

    Författare :Ida Höijer; Ulf B. Gyllensten; Adam Ameur; Lars Feuk; Winston Timp; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; long-read sequencing; targeted sequencing; targeted enrichment; CRISPR-Cas9; off-targets; medical genetics; repeat expansion; structural variant;

    Sammanfattning : 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. LÄS MER

  7. 5. Exploring human variations by droplet barcoding

    Författare :Pontus Höjer; Afshin Ahmadian; Pelin Sahlén; Lars Feuk; KTH; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; droplets; linked-read sequencing; DNA barcoding; proteomics; genomics; single cell; single extracellular vesicle; single exosome; pipelines; Biotechnology; Bioteknologi;

    Sammanfattning : 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. LÄS MER