Sökning: "Human genome"

Visar resultat 16 - 20 av 683 avhandlingar innehållade orden Human genome.

  1. 16. Human-computer interaction principles for developing web-based genomics resources

    Författare :Chanaka Mannapperuma; Nathaniel Street; John Waterworth; Marek Mutwil; Umeå universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES;

    Sammanfattning : Genomics projects, including genome sequencing, transcriptomics, genome-wide association mapping and epigenetics assays, producevast quantities of data. Extracting the required information from such complex datasets is a significant challenge and even where software tools do exist, these are often not intuitive or designed fornon-specialist users. LÄS MER

  3. 17. Understanding Cancer Mutations by Genome Editing

    Författare :Muhammad Akhtar Ali; Tobias Associate Professor; Thierry Soussi; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genome editing; rAAV; ZBED6; DIP2C; KRAS; BRAF; colorectal cancer; tumor driver genes; cancer pathways;

    Sammanfattning : Mutational analyses of cancer genomes have identified novel candidate cancer genes with hitherto unknown function in cancer. To enable phenotyping of mutations in such genes, we have developed a scalable technology for gene knock-in and knock-out in human somatic cells based on recombination-mediated construct generation and a computational tool to design gene targeting constructs. LÄS MER

  4. 18. Interpreting the human transcriptome

    Författare :Beata Werne Solnestam; Joakim Lundeberg; Piero Carninci; KTH; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Transcriptome; RNA sequencing; high-throughput sequencing; gene expression profiling; multiplex amplification; Bioteknologi; Biotechnology;

    Sammanfattning : The human body is made of billions of cells and nearly all have the same genome. However, there is a high diversity of cells, resulted from what part of the genome the cells use, i.e. which RNA molecules are expressed. LÄS MER

  5. 19. Computational Modelling of Gene Regulation in Cancer : Coding the noncoding genome

    Författare :Husen Muhammad Umer; Jan Komorowski; Claes Wadelius; Jan Korbel; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Regulatory elements; gene regulation; cancer; motif; integrative database; software solutions for cancer data; Bioinformatics; Bioinformatik;

    Sammanfattning : Technological advancements have enabled quantification of processes within and around us. The information stored within our body converts into petabytes of data. Processing and learning from such data requires comprehensive computational programs and software systems. LÄS MER

  7. 20. Genetic and Epigenetic Variation in the Human Genome : Analysis of Phenotypically Normal Individuals and Patients Affected with Brain Tumors

    Författare :Cecilia De Bustos; Jan P. Dumanski; Joseph F. Costello; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Molecular genetics; genetic variation; epigenetics; brain tumor; array-CGH; glioblastoma; ependymoma; microarray; methylation; Genetik; Genetics; Genetik;

    Sammanfattning : Genetic and epigenetic variation is a key determinant of human diversity and has an impact on disease predisposition. Single nucleotide polymorphisms (SNPs) and copy number polymorphisms (CNPs) are the main forms of genetic variation. The challenge is to distinguish normal variations from disease-associated changes. LÄS MER