Sökning: "exome sequencing"

Visar resultat 21 - 25 av 73 avhandlingar innehållade orden exome sequencing.

1. 21. Genetic studies of craniosynostosis with focus on syndromic forms

   Författare :Alexandra Topa; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; cranial; suture; genetic; diagnostic; next generation sequencing;

   Sammanfattning : Craniosynostosis (CS) represents the premature closure of skull sutures and affects ~1 in 2500 children. Untreated CS can lead to significant complications in craniofacial and psychomotor development. The only treatment available is surgical and requires access to highly specialized healthcare. LÄS MER

3. 22. Statistical assessment of genomic variability in tumours and bacterial communities

   Författare :Anna Rehammar; Chalmers tekniska högskola; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; somatic mutations; hierarchical Bayesian modelling; cancer genetics; high-throughput sequencing; metagenomics; personalised diagnostics;

   Sammanfattning : Current high-throughput DNA sequencing technologies have the ability to generate large amounts of high-resolution genomic data. The high dimensionality in combination with the substantial levels of technical errors and biological variability typically present in the data make, however, the analysis challenging. LÄS MER

4. 23. Towards understanding of complex disease etiology using sequence Capture Hi-C (HiCap) and associated high throughput functional assays

   Författare :Sailendra Pradhananga; Pelin Sahlén; Joakim Lundeberg; Benedicte Alexandra Lie; KTH; []
   Nyckelord :Capture Hi-C; RNA sequencing; Whole genome sequencing; ChIP sequencing; Chromatin loops; enhancers; promoters; Bioteknologi; Biotechnology;

   Sammanfattning : A human genome laid out in a straight line would measure 2m from end to end, but in living cells it is folded into a compact structure contained in a nuclear space with a diameter of 2µm. This compact genome is hierarchically organized and spatiotemporally regulates distinct cellular gene expression mechanisms via promoter - enhancer chromatin loops. LÄS MER

5. 24. Genetic Alterations in Pheochromocytoma and Paraganglioma

   Författare :Jenny Welander; Peter Söderkvist; Oliver Gimm; Mercedes Robledo; Linköpings universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Pheochromocytoma; paraganglioma; genetics; sequencing; cancer; mutation;

   Sammanfattning : Pheochromocytomas and paragangliomas are neuroendocrine tumors that arise from neural crest-derived cells of the adrenal medulla and the extra-adrenal paraganglia. They cause hypertension due to an abnormally high production of catecholamines (mainly adrenaline and noradrenaline), with symptoms including recurrent episodes of headache, palpitations and sweating, and an increased risk of cardiovascular disease. LÄS MER

7. 25. Novel genetic associations with common variable immunodeficiency

   Författare :Omar Khalid Sharif Alkhairy; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Common variable immunodeficiency (CVID) is the most frequently encountered primary immunodeficiency disorder in clinical practice and is a cause of significant morbidity and mortality for patients. The main clinical features are hypogammaglobulinemia, recurrent infections and autoimmune disorders. LÄS MER