Search for dissertations about: "Droplet PCR"

Showing result 6 - 10 of 25 swedish dissertations containing the words Droplet PCR.

  2. 6. Measurable residual disease and clonal evolution in acute myeloid leukemia with focus on NPM1-mutations

    Author : Louise Pettersson; Lund Patologi; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; AML; MRD; Measurable residual disease; NPM1; NPM1-mutation; NPM1 type A mutation; clonal evolution; clonal patterns; subclones; genetic evolution; qPCR; RQ-PCR; ddPCR; deep seq; deep sequencing; NGS; RT-qPCR; old; elderly; MFC; flow cytometry;

    Abstract : Acute myeloid leukemia (AML) is the most common form of acute leukemia in adults, with mutations in the NPM1 gene occurring in almost one third of all cases. The ability to detect residual leukemia below the resolution of conventional microscopy is crucial for evaluation of relapse risk after therapy. READ MORE

  4. 7. Genetics, epigenetics and functional mechanisms in inherited corneal and retinal dystrophies

    Author : Ida Maria Westin; Irina Golovleva; Berit Byström; Marie Burstedt; Ola Sandgren; Sudha Iyengar; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Epigenetics; Splicing; Methylation; Ophtalmology; FECD; Stargardt; Retinitis pigmentosa; ABCA4; EYS; TCF4; F5; THBD; Coagulation factor V; Thrombomodulin; medicinsk genetik; Medical Genetics;

    Abstract : Inherited eye disorders (IED) are groups of genetically and clinically heterogenous conditions affecting different tissues in the eye. IED are most often progressive with reduced vision or legal blindness as outcome. READ MORE

  5. 8. Studies of genetic mosaicism in rare diseases

    Author : Sofia Frisk; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Mosaicism in human genetics refers to an individual harboring two or more genetic compositions, all derived from the same fertilized egg. Common signs of genetic mosaicism are asymmetric growth, skin aberrations or vascular malformations. READ MORE

  6. 9. Advanced Genomic Tools in Translational Research of Neurodevelopmental Disorders

    Author : Josefin Johansson; Maria Wilbe; Joris Vermeesch; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; neurodevelopmental disorders; translational research; advanced genomic technologies; Medicinsk genetik; Medical Genetics;

    Abstract : Neurodevelopmental disorders (NDDs) affect >4.7% of individuals world-wide. Most cases are expected to have an underlying genetic cause. However, only 36–40% of those affected get a genetic diagnosis through exome sequencing. READ MORE

  7. 10. Improved Techniques for High-Throughput Molecular Diagnostics

    Author : Mario Curcio; KTH; []
    Keywords : DNA; Molecular Diagnostics;

    Abstract : The amount of information derived from sequencing the humangenome is leading to an exponential increase in the rate atwhich genes and genetic disorders are mapped and characterized.As a consequence, the demand for genetic testing is alsodramatically increasing. READ MORE