Sökning: "medical gene technology"

Visar resultat 21 - 25 av 120 avhandlingar innehållade orden medical gene technology.

  1. 21. Genetics of Two Mendelian Traits and Validation of Induced Pluripotent Stem Cell (iPSC) Technology for Disease Modeling

    Författare :Doroteya Raykova; Niklas Dahl; Ann Nordgren; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Disease modeling; Mendelian disorders; iPSC; Whole exome sequencing; Transcriptome sequencing; Medical Science; Medicinsk vetenskap;

    Sammanfattning : Novel technologies for genome analysis have provided almost unlimited opportunities to uncover structural gene variants behind human disorders. Whole exome sequencing (WES) is especially useful for understanding rare Mendelian conditions, because it reduces the requirements for a priori clinical data, and can be applied on a small number of patients. LÄS MER

  3. 22. Chicken domestication : Effects of tameness on brain gene expression and DNA methylation

    Författare :Johan Bélteky; Per Jensen; Anna Kukekova; Linköpings universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES;

    Sammanfattning : Domestication greatly increases phenotypic variation in a short time span, with selection for a single phenotype and a plethora of associated phenotypic changes as an outcome of the process. The domestication process influences the underlying genomic architecture of a species, and the success and speed of the process is likely influenced by it. LÄS MER

  4. 23. Elucidating the Blood Group Regulome

    Författare :Ping Chun Wu; Avdelningen för hematologi och transfusionsmedicin; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; blood group; gene regulation; transcription factors; erythrocyte; transfusion medicine;

    Sammanfattning : .... LÄS MER

  5. 24. Exploring genetic heterogeneity in cancer using high-throughput DNA and RNA sequencing

    Författare :Erik Fasterius; Cristina Al-Khalili Szigyarto; Mathias Uhlén; Peter-Bram ’t Hoen; KTH; []
    Nyckelord :TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; NATURVETENSKAP; NATURAL SCIENCES; Biotechnology; bioinformatics; RNA-seq; WGS; WES; systems biology; variant analysis; single nucleotide variant; gene expression; machine learning; clustering; open source; R; bioconductor; Python; Bioteknologi; Biotechnology;

    Sammanfattning : High-throughput sequencing (HTS) technology has revolutionised the biomedical sciences, where it is used to analyse the genetic makeup and gene expression patterns of both primary patient tissue samples and models cultivated in vitro. This makes it especially useful for research on cancer, a disease that is characterised by its deadliness and genetic heterogeneity. LÄS MER

  7. 25. High-resolution Studies of mRNA Expression in Brain : A Search for Genes Differently Expressed in Schizophrenia

    Författare :Anja Castensson; Elena Jazin; Terence Speed; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; mRNA; gene expression; real-time RT-PCR; schizophrenia; 5-HT serotonin receptor 2C; brain; psychiatric genetics; Genetik; Clinical genetics; Klinisk genetik;

    Sammanfattning : Gene expression differences between patients and controls can be used to find susceptibility genes and drug targets for a disease. High-resolution strategies are required because the differences between the investigated groups may be small and numerous factors may affect the mRNA quantity. LÄS MER