Sökning: "Syvänen Ann-Christine"

Visar resultat 1 - 5 av 21 avhandlingar innehållade orden Syvänen Ann-Christine.

  1. 1. Applications of Four-Colour Fluorescent Primer Extension Technology for SNP Analysis and Discovery

    Författare :Annika Ahlford; Ann-Christine Syvänen; Mats Nilsson; David Schwartz; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Single nucleotide polymorphism; Genotyping; Massively parallel sequencing; Gene mapping; Lab-on-a-chip; Medical genetics; Medicinsk genetik; Molecular biology; Molekylärbiologi; Molekylär medicin; Molecular Medicine;

    Sammanfattning : Studies on genetic variation can reveal effects on traits and disease, both in humans and in model organisms. Good technology for the analysis of DNA sequence variations is critical. Currently the development towards assays for large-scale and parallel DNA sequencing and genotyping is progressing rapidly. LÄS MER

  3. 2. Genetic Cartography at Massively Parallel Scale

    Författare :Johan Dahlberg; Ann-Christine Syvänen; Adam Ameur; Michael C. Zody; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; NATURVETENSKAP; NATURAL SCIENCES; Acute Lymphoblastic Leukemia ALL ; RNA-Sequencing; Bioinformatics; Pooling; Whole Genome Sequencing; Medicinsk genetik; Medical Genetics; Bioinformatics; Bioinformatik;

    Sammanfattning : Massively parallel sequencing (MPS) is revolutionizing genomics. In this work we use, refine, and develop new tools for the discipline.MPS has led to the discovery of multiple novel subtypes in Acute Lymphoblastic Leukemia (ALL). In Study I we screen for fusion genes in 134 pediatric ALL patients, including patients without an assigned subtype. LÄS MER

  4. 3. Analysis of Complex Genetic Traits in Population Cohorts using High-throughput Genotyping Technology

    Författare :Andreas Dahlgren; Ann-Christine Syvänen; Håkan Melhus; Markus Perola; Struan Grant; Uppsala universitet; []
    Nyckelord :Molecular medicine; SNP; TCF7L2; HHEX; COL11A1; ESR1; body height; type 2 diabetes mellitus; proinsulin; ULSAM; complex genetic trait; genotyping technology; Molekylärmedicin;

    Sammanfattning : Most human traits and common diseases have a complex genetic makeup involving more than one gene. The work presented in this thesis investigates standing body height and the common disease type 2 diabetes mellitus (T2DM). LÄS MER

  5. 4. 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. 5. Pharmacogenomics of Antihypertensive Treatment & Clinical Pharmacological Studies of Digoxin Treatment

    Författare :Pär Hallberg; Håkan Melhus; Ann-Christine Syvänen; Lars Lind; Jiguang Wang; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Molecular medicine; pharmacogenomics; irbesartan; atenolol; hypertension; digoxin; RIKS-HIA; atrial fibrillation; heart failure; Molekylärmedicin; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ;

    Sammanfattning : In Part I we found that the CYP2C9 genotype appears to influence the diastolic blood pressure response to the angiotensin II-receptor antagonist irbesartan in patients with hypertension and left ventricular hypertrophy. Those with the *1/*2 genotype (slower metabolism) responded better than those with the *1/*1 genotype (normal metabolism), likely due to a slower elimination of the drug. LÄS MER