Sökning: "exome sequencing"

Visar resultat 16 - 20 av 73 avhandlingar innehållade orden exome sequencing.

1. 16. Genotypic and phenotypic spectrum of mitochondrial diseases with focus on early onset mitochondrial encephalopathies

   Författare :Kalliopi Sofou; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Mitochondrial diseases; mitochondrial encephalopathy; Alpers syndrome; Leigh syndrome; neuroimaging; whole exome sequencing;

   Sammanfattning : Early-onset mitochondrial encephalopathies comprise a challenging group of neurodegenerative disorders. This is due to their progressive nature, often leading to major disability and premature death, as well as their diagnostic complexity and lack of customized treatments. LÄS MER

3. 17. Application of next generation sequencing in genetic and genomic studies

   Författare :Jingwen Wang; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Genetic variants that spread along the human genome play vital roles in determining our traits, affecting development and potentially causing disorders. Most common disorders have complex underlying mechanisms involving genetic or environmental factors and the interaction between them. LÄS MER

4. 18. Genome-wide Characterization of RNA Expression and Processing

   Författare :Ammar Zaghlool; Lars Feuk; Rickard Sandberg; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; RNA sequencing; RNA splicing; RNA processing; Gene expression; Molekylär genetik; Molecular Genetics;

   Sammanfattning : The production of fully mature protein-coding transcripts is an intricate process that involves numerous regulation steps. The complexity of these steps provides the means for multilayered control of gene expression. LÄS MER

5. 19. Next generation sequencing to find genetic risk factors in familial cancer

   Författare :Jessada Thutkawkorapin; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : In 2015, Cancer is the second leading cause of death worldwide. Genetic predisposition in familial cancer cases is largely unexplained. At the same time, rapid development in sequencing technology results in an unprecedented increase in the amount of whole exome- and whole genome sequencing data. LÄS MER

7. 20. Methods for deep examination of DNA

   Författare :Mårten Neiman; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :massive parallel sequencing;

   Sammanfattning : The development of sequencing technology has had a rapid pace during the last years and today, the sequencing instruments harbors enormous capacity. This thesis is about the development of methods to make the most out of this capacity and to use it for various applications. LÄS MER