Sökning: "whole genome screening"

Visar resultat 1 - 5 av 34 avhandlingar innehållade orden whole genome screening.

  1. 1. Exploring genetic diversity in natural and domestic populations through next generation sequencing

    Författare :Nima Rafati; Leif Andersson; Carl-Johan Rubin; Alvaro Martinez Bario; Craig Primmer; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Ecological adaptation; seasonal reproduction; Atlantic herring; domestication; speciation; rabbit; skeletal atavism; Shetland ponies; NGS; SMRT sequencing; genome; transcriptome; assembly; structural variation; genetic diversity; HCE; TSHR; SHOX; CRLF2;

    Sammanfattning : Studying genetic diversity in natural and domestic populations is of major importance in evolutionary biology. The recent advent of next generation sequencing (NGS) technologies has dramatically changed the scope of these studies, enabling researchers to study genetic diversity in a whole-genome context. LÄS MER

  3. 2. Biological markers in breast cancer and acute leukaemia with focus on drug resistance

    Författare :Elisabet Tina; Ulf Tidefelt; Sten Wingren; Mats G. Karlsson; Jan-Ingvar Jönsson; Örebro universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Breast cancer; acute leukaemia; drug resistance; toposiomerase IIa; BCRP; HER2; SLC25A43; flow cytometry; real time PCR; whole genome screening; MEDICINE; MEDICIN; Oncology; Onkologi; Biomedicin; Biomedicine;

    Sammanfattning : .... LÄS MER

  4. 3. Individualized treatment and control of bacterial infections

    Författare :Hanna Woksepp; Thomas Schön; Anders Johansson; Linnéuniversitetet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; therapeutic drug monitoring; intensive care unit; β-lactam antibiotics; antimicrobial drug resistance; molecular typing; whole-genome sequencing; Biomedical Sciences; Biomedicinsk vetenskap;

    Sammanfattning : Infectious diseases cause substantial morbidity and mortality, exacerbated by increasing antibiotic resistance. In critically ill patients, recent studies indicate a substantial variability in β-lactam antibiotic levels when standardized dosing is applied. LÄS MER

  5. 4. Recurrent Genetic Mutations in Lymphoid Malignancies

    Författare :Emma Young; Richard Rosenquist; Larry Mansouri; Lesley Ann Sutton; Dimitar Efremov; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Lymphoid malignancies; mutations; CLL; stereotypy; subsets; PMBL; NFKBIE; EGR2; whole-genome sequencing; Molekylär genetik; Molecular Genetics; Oncology; Onkologi;

    Sammanfattning : In recent years, the genetic landscape of B-cell derived lymphoid malignancies, including chronic lymphocytic leukemia (CLL), has been rapidly unraveled, identifying recurrent genetic mutations with potential clinical impact. Interestingly, ~30% of all CLL patients can be assigned to more homogeneous subsets based on the expression of a similar or “stereotyped” B-cell receptor (BcR). LÄS MER

  7. 5. Massively parallel analysis of cells and nucleic acids

    Författare :Julia Sandberg; Joakim Lundeberg; Nader Pourmand; KTH; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Massively parallel sequencing; 454; Illumina; multiplex amplification; whole genome amplification; single cell; polyguanine; flow-cytometry;

    Sammanfattning : Recent proceedings in biotechnology have enabled completely new avenues in life science research to be explored. By allowing increased parallelization an ever-increasing complexity of cell samples or experiments can be investigated in shorter time and at a lower cost. LÄS MER