Search for dissertations about: "whole genome amplification"

Showing result 6 - 10 of 26 swedish dissertations containing the words whole genome amplification.

  1. 6. Somatic Mutations in Breast Cancer Genomes Discovery and Validation of Breast Cancer Genes

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Xiang Jiao; Uppsala universitet.; [2012]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; breast cancer; cancer gene; pathway; somatic mutation; structural alteration; sequencing; whole genome amplification; Genetics; Genetik; Medical Genetics; Medicinsk genetik;

    Abstract : Breast cancer is the most common cancer in women worldwide. However, the genetic alterations that lead to breast cancer are not fully understood. This thesis aims to identify novel genes of potential mechanistic, diagnostic or therapeutic interest in breast cancers by mutational analysis and whole-genome sequencing. READ MORE

  2. 7. Methods for Analysis of Disease Associated Genomic Sequence Variation

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Lovisa Lovmar; Uppsala universitet.; [2004]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Molecular medicine; microarray; molecular medicine; single nucleotide polymorphism; whole genome amplification; breast cancer; endometrial cancer; human rotavirus; Molekylärmedicin; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Internal medicine Molecular medicine genetics and pathology ; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Invärtesmedicin Molekylär medicin genetik och patologi ;

    Abstract : In Molecular Medicine a wide range of methods are applied to analyze the genome to find genetic predictors of human disease. Apart from predisposing disease, genetic variations may also serve as genetic markers in the search for factors underlying complex diseases. READ MORE

  3. 8. Transcriptome and Proteome Analysis using Signature Tags

    University dissertation from Stockholm : Bioteknologi

    Author : Charlotta Agaton; KTH.; [2003]
    Keywords : functional genomics; 3´-end signature tags; pyrosequencing; amplification; PrEST; chromosome 21; polyclonal antibodies; dual expression; affinity purification;

    Abstract : With the full sequence of the human genome now available, anexciting era in biomedical research has started. The sequenceprovides information about all our genes and greatly increasesthe scope to compare genetic activities in different cells, toanalyze genetic variation between individuals and betweendifferent species and, most importantly, to investigatesystematically the whole genome in a gene-by-gene manner, andthus increase our understanding of gene function. READ MORE

  4. 9. Using Minisequencing Technology for Analysing Genetic Variation in DNA and RNA

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Mona Fredriksson; Uppsala universitet.; [2005]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Molecular medicine; microarray; minisequencing; molecular medicine; single nucleotide polymorphism; stem cell transplantation; whole genome amplification; allelic imbalance; alternative splicing; Molekylärmedicin; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Internal medicine Molecular medicine genetics and pathology ; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Invärtesmedicin Molekylär medicin genetik och patologi ;

    Abstract : In this thesis, the four-color fluorescence tag-microarray minisequencing system pioneered by our group was further developed and applied for analysing genetic variation in human DNA and RNA. A SNP marker panel representing different chromosomal regions was established and used for identification of informative SNP markers for monitoring chimerism after stem cell transplantation (SCT). READ MORE

  5. 10. Phasing single DNA molecules with barcode linked sequencing

    University dissertation from Stockholm : KTH Royal Institute of Technology

    Author : David Redin; KTH.; [2018]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Single molecule sequencing; DNA barcoding; whole genome haplotyping; linked-read sequencing; phasing; de novo genome assembly.; Biotechnology; Bioteknologi;

    Abstract : Elucidation of our genetic constituents has in the past decade predominately taken the form of short-read DNA sequencing. Revolutionary technology developments have enabled vast amounts of biological information to be obtained, but from a medical standpoint it has yet to live up to the promise of associating individual genotypes to phenotypic states of wide-spread clinical relevance. READ MORE