Sökning: "Copy number variations"

Visar resultat 1 - 5 av 39 avhandlingar innehållade orden Copy number variations.

1. 1. Modelling Allelic and DNA Copy Number Variations using Continuous-index Hidden Markov Models

   Författare :Susann Stjernqvist; Matematisk statistik; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Hidden Markov models; DNA copy number; allelic copy number; Markov chain Monte Carlo;

   Sammanfattning : In human cells there are usually two copies of each chromosome, but in cancer cells abnormalities could exist. The differences consist of segments of chromosomes with an altered number of copies. There can be deletions as well as amplifications and the lengths of the segments can also vary. LÄS MER

3. 2. 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

4. 3. Genetic studies of children with mental retardation

   Författare :Saideh Rajaei; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Mental retardation; Rett syndrome; RTT; early onset infantile RTT; MECP2; SMR; SNP array; copy number variations; CNV; MECP2 duplication syndrom;

   Sammanfattning : Mental retardation (MR) is characterised by significant limitations in intellectual function and adaptive behaviour. It is estimated that MR affects up to 3% of the population in Europe. Patients with MR are an aetiologically heterogeneous group. Approximately 25-35% of the patients have a genetic diagnosis. LÄS MER

5. 4. Pancreatic Cancer. Experimental and Clinical Studies

   Författare :David Ljungman; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Pancreatic neoplasms; Proteasome inhibitors; Apoptosis; Intracellular signaling peptides and proteins; Epidermal growth factor receptor; Pancreaticoduodenectomy; Cost and cost analysis; Quality-adjusted life years; Copy number variations; Comparative genomic hybridization;

   Sammanfattning : Background: Pancreatic cancer is one of the most lethal of known cancers and the only treatment with possibility of cure is surgery. The costs associated with treatment of pancreatic cancer are reputably high, both in terms of morbidity and financially. LÄS MER

7. 5. Analysis of chromosomal rearrangements and gene copy number changes in breast cancer cells

   Författare :Pär Lundin; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Genome changes in terms of numerical chromosomal aberrations and structural rearrangements, including deletions, amplifications and translocations, gradually accumulate in the genome during tumor development. These genomic changes are likely to play an important role in the process of tumor progression. LÄS MER