Sökning: "allelic copy number"
Visar resultat 1 - 5 av 13 avhandlingar innehållade orden allelic copy number.
1. Modelling Allelic and DNA Copy Number Variations using Continuous-index Hidden Markov Models
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
2. Meiotic Recombination in Human and Dog : Targets, Consequences and Implications for Genome Evolution
Sammanfattning : Understanding the mechanism of recombination has important implications for genome evolution and genomic variability. The work presented in this thesis studies the properties of recombination by investigating the effects it has on genome evolution in humans and dogs. LÄS MER
3. Statistical methods for the detection and analyses of structural variants in the human genome
Sammanfattning : Structural variations (SVs) are an important and abundant source of variation in the human genome, encompassing a greater proportion of the genome as compared to single nucleotide polymorphisms (SNPs). This thesis investigates different aspects of SV analysis, focusing on copy number variations (CNVs) and regions of homozygosity (ROHs). LÄS MER
4. Mutations and molecular signatures in human melanoma
Sammanfattning : Cutaneous melanoma is a disease which results from a complex mixture of various extrinsic and intrinsic factors, with some major players still unknown. Although primary tumors are highly curable with surgical excision, particularly those which are non-ulcerated and have a thickness of less than 1 mm, poor survival rates are observed in advanced disease. LÄS MER
5. Structural genomic variation in human disease
Sammanfattning : Structural variants (SVs) are physical changes in the structure of chromosomes and include both unbalanced copy number variants (CNVs) and balanced events (translocations, inversions and insertions). Many SVs constitute benign background variation and are found frequently in healthy individuals. LÄS MER