Sökning: "whole genome amplification"

Visar resultat 6 - 10 av 30 avhandlingar innehållade orden whole genome amplification.

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

   Författare :Xiang Jiao; Tobias Sjöblom; Anne-Lise Børresen-Dale; Uppsala universitet; []
   Nyckelord :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;

   Sammanfattning : 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. LÄS MER

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

   Författare :Lovisa Lovmar; Ann-Christine Syvänen; Pui-Yan Kwok; Uppsala universitet; []
   Nyckelord :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; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ;

   Sammanfattning : 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. LÄS MER

4. 8. Transcriptome and Proteome Analysis using Signature Tags

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

   Sammanfattning : 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. LÄS MER

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

   Författare :Mona Fredriksson; Ann-Christine Syvänen; Aarno Palotie; Uppsala universitet; []
   Nyckelord :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; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ;

   Sammanfattning : 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). LÄS MER

7. 10. Single-cell population genetics and dispersal limitation of a bloom-forming microalga

   Författare :Raphael Gollnisch; Enhet akvatisk ekologi; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Gonyostomum semen; algal blooms; invasive species; population structure; RADseq; single-cell whole genome amplification; multiple displacement amplification; calcium; pH; iron;

   Sammanfattning : Microalgal range expansions are increasing in frequency and magnitude worldwide mostly due to anthropogenic factors. However, they often remain unnoticed until mass development (algal blooms) occurs due to difficulties in detection when population densities are low. LÄS MER