Sökning: "rare DNA"

Visar resultat 11 - 15 av 153 avhandlingar innehållade orden rare DNA.

1. 11. Studies of genetic mosaicism in rare diseases

   Författare :Sofia Frisk; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : 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. LÄS MER

3. 12. Next generation molecular diagnostics using ultrasensitive sequencing

   Författare :Stefan Filges; Göteborgs universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Liquid biopsy; cell-free DNA; circulating tumor DNA; molecular diagnostics; next-generation sequencing; unique molecular identifiers; melanoma;

   Sammanfattning : Massively parallel sequencing enables the exploration of the genetic heterogeneity within microbial, viral and tumor cell populations. Detecting circulating tumor DNA in blood and other body fluids has the potential to revolutionize molecular diagnostics. LÄS MER

4. 13. Population History and Non-invasive Monitoring : Use of low copy number DNA in Conservation Genetics

   Författare :Øystein Flagstad; Ettore Randi; Uppsala universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Biology; genetic tagging; immigration; loss of genetic variability; non-invasive molecular techniques; population decline; Swayne’s hartebeest; wolf; wolverine; Biologi; Biology; Biologi; ekologisk botanik; Ecological Botany;

   Sammanfattning : Conservation genetics research is increasingly becoming an integrated part of the management of small and endangered populations. In this thesis I developed tools for genetic analysis of low copy number sources of DNA, such as old teeth from museum specimens as well as field-collected faeces and urine. LÄS MER

5. 14. Dynamic regulation of DNA methylation in human T-cell biology

   Författare :Antonio Lentini; Colm Nestor; Mikael Benson; Huan Zhang; Mika Gustafsson; Ian R. Adams; Linköpings universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

   Sammanfattning : T helper cells play a central role in orchestrating immune responses in humans. Upon encountering a foreign antigen, T helper cells are activated followed by a differentiation process where the cells are specialised to help combating the infection. LÄS MER

7. 15. Brain tumors in children - National population-based studies on classification, diagnostics and long-term follow-up

   Författare :Elizabeth Schepke; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Pediatric CNS tumors; population-based; DNA methylation; profiling; CNS-PNET; re-evaluation; incidence rate; long-term outcome; classification; Pediatric CNS tumors; Population-based; DNA methylation; Profiling; CNS-PNET; Re-evaluation; Incidence rate; Long-term outcome; Classification;

   Sammanfattning : Although the prognosis for pediatric tumors of the central nervous system (CNS) has improved over time it is urgent to reduce mortality and improve long-term quality of life for survivors. With this aim, the first step is to identify the correct diagnosis in order to choose the right therapy and avoid unnecessary treatment. LÄS MER