Sökning: "allelic copy number"

Visar resultat 1 - 5 av 13 avhandlingar innehållade orden allelic copy number.

  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. Meiotic Recombination in Human and Dog : Targets, Consequences and Implications for Genome Evolution

    Författare :Jonas Berglund; Matthew Webster; Kerstin Lindblad-Toh; Leif Andersson; Nadia Singh; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; recombination; biased gene conversion; CpG island; copy number variation; substitutions; methylation; Bioinformatics; Bioinformatik; Biology with specialization in Evolutionary Genetics; Biologi med inriktning mot evolutionär genetik; Biologi med inriktning mot molekylär evolution; Biology with specialization in Molecular Evolution; Molekylär genetik; Molecular Genetics;

    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

  4. 3. Statistical methods for the detection and analyses of structural variants in the human genome

    Författare :Shu Mei Teo; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    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

  5. 4. Mutations and molecular signatures in human melanoma

    Författare :Braslav Jovanovic; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    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

  7. 5. Structural genomic variation in human disease

    Författare :Maria Pettersson; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    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