Sökning: "genetic variations"

Visar resultat 1 - 5 av 271 avhandlingar innehållade orden genetic variations.

1. 1. Analysis of genetic variations in cancer

   Författare :Johanna Hasmats; Joakim Lundeberg; Carsten Daub; KTH; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Cancer; Mutations; Variations; Single Nucleotide Polymorphism; DNA; RNA; Genome; Massively Parallel Sequencing; Exome Sequencing; Toxicity;

   Sammanfattning : The aim of this thesis is to apply recently developed technologies for genomic variation analyses, and to ensure quality of the generated information for use in preclinical cancer research.Faster access to a patients’ full genomic sequence for a lower cost makes it possible for end users such as clinicians and physicians to gain a more complete understanding of the disease status of a patient and adjust treatment accordingly. LÄS MER

3. 2. On the aetiology of ALS : a comprehensive genetic study

   Författare :Caroline Ingre; Peter M Andersen; Rayomand Press; Siddharthan Chandran; Umeå universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; ALS; risk factor; VAPB; SOD1; amyotrophic lateral sclerosis; ATXN2; SMN1; SMN2; PFN1; 50 bp deletion in SOD1 promotor; population-specific genetic variations; Neurology; neurologi;

   Sammanfattning : Introduction: Amyotrophic lateral sclerosis (ALS) is a deadly, progressive neuromuscular disease that affects individuals all over the world. About 10% of the patients have a familial predisposition (FALS) while the remainder of cases are isolated or sporadic (SALS) and of unknown cause. LÄS MER

4. 3. Extracting Genomic Variations using Selector Technology

   Författare :Magnus Isaksson; Mats Nilsson; Radoje Drmanac; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Selector; Selector probe; Genetic variation; Resequencing; Targeted sequencing; copy-number variations; MLGA; Bioinformatics; Next generation sequencing; NGS; Amplified single molecule; ASM; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Genetics; Genetik; Molekylär medicin; Molecular Medicine;

   Sammanfattning : This thesis describes the development and use of a new class of molecular tools called Selector probes, and its potential for investigations of genetic variation. The Selector technology provides multiplex amplification of targeted DNA sequences with a high specificity, and an enrichment factor in the same order of magnitude as PCR. LÄS MER

5. 4. Comparative Genomics in Diplomonads : Lifestyle Variations Revealed at Genetic Level

   Författare :Feifei Xu; Jan O. Andersson; Staffan G. Svärd; Matt Berriman; Uppsala universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; comparative genomics; Giardia intestinalis; Spironucleus salmonicida; Trepomonas; diplomonad; intestinal parasite; free-living; sexual recombination; hydrogenosome; horizontal gene transfer; Biologi med inriktning mot molekylär evolution; Biology with specialization in Molecular Evolution;

   Sammanfattning : As sequencing technologies advance genome studies are becoming a basic tool for studying an organism, and with more genomes available comparative genomics is maturing into a powerful tool for biological research. This thesis demonstrates the strength of a comparative genomics approach on a group of understudied eukaryotes, the diplomonads. LÄS MER

7. 5. Genetic Variations in the NLRP3 Inflammasome : Susceptibility Factor for Chronic Inflammation

   Författare :Deepti Verma; Peter Söderkvist; Särndahl Särndahl; Hal Hoffman; Linköpings universitet; []
   Nyckelord :MEDICINE; MEDICIN;

   Sammanfattning : NLRP3 has been recognized as one of the key components of innate immunity. Upon activation, NLRP3 forms a multiprotein complex called as the ‘inflammasome’ which leads to the activation of pro-inflammatory caspase-1 which subsequently results in the formation of Interleukin (IL)-1β and IL-18. LÄS MER