Sökning: "de novo mutation detection"

Hittade 4 avhandlingar innehållade orden de novo mutation detection.

  1. 1. Genome sequencing. Analysis of pathogenicity factors in hereditary and bacterial diseases

    Författare :Joakim Westberg; KTH; []
    Nyckelord :genome sequencing; DNA sequencing; dye-terminator; solid-phase; de novo mutation detection; Mycoplasma mycoides subsp. mycoides SC; mycoplasma; CBPP; properdin; insertion sequence; ISMmy1;

    Sammanfattning : With a metal removal process based on precipitation aimed atthe purification of pulping effluent as a starting point, theinfluence of carboxylic acids on calcium carbonateprecipitation has been studied. The chosen carboxylic acids canact as more or less strong complexing agents for aqueouscalcium, just as many compounds found in pulping liquors. LÄS MER

  3. 2. The art of transcriptome reconstruction : with applications in Picea abies (L.) H. Karst

    Författare :Karl Johan Westrin; Olof Emanuelsson; Henric Zazzi; Lukas Käll; Jens Sundström; Jarkko Salojärvi; KTH; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; transcriptome reconstruction; transcriptome assembly; transcript isoform detection; Picea abies; acrocona; cone setting; differential expression; gene families; miRNA; quality assessment; transkriptomrekonstruktion; sammansättning av transkriptom; detektering av transkriptisoform; rödgran; kottegran; kottsättning; differentiellt uttryck; genfamiljer; kvalitetsutvärdering; miRNA; Biotechnology; Bioteknologi;

    Sammanfattning : Transcriptome reconstruction is an important component in the bioinformatical part of transcriptome studies. When a reference genome is missing, highly fragmented or incomplete, a de novo transcriptome assembly is the transcriptome reconstruction approach of choice, since in such situations, a simple alignment (or mapping) would not necessarily give all theinformation concerning splice junctions, isoforms or even the full extent of the gene. LÄS MER

  4. 3. Genotype/ phenotype correlation of two neuropsychiatric diseases. A genetic study of CDG1a and Rett syndrome

    Författare :Anna Erlandson; Göteborgs universitet; []
    Nyckelord :CDG 1a; PMM2; Rett syndrome; MECP2; mutations; genotype phenotype; DHPLC; MLPA;

    Sammanfattning : The aim of this thesis was to investigate the effects of mutations in the genes that cause the two neuropsychiatric diseases congenital disorder of glycosylation (CDG) type Ia and Rett syndrome. These two diseases affect children's central and peripheral nervous systems, causing mental retardation and neuronal impairment. LÄS MER

  5. 4. Genome-wide Characterization of RNA Expression and Processing

    Författare :Ammar Zaghlool; Lars Feuk; Rickard Sandberg; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; RNA sequencing; RNA splicing; RNA processing; Gene expression; Molekylär genetik; Molecular Genetics;

    Sammanfattning : The production of fully mature protein-coding transcripts is an intricate process that involves numerous regulation steps. The complexity of these steps provides the means for multilayered control of gene expression. LÄS MER