Search for dissertations about: "Gene duplication"

Showing result 16 - 20 of 112 swedish dissertations containing the words Gene duplication.

  2. 16. Reconciling gene family evolution and species evolution

    Author : Joel Sjöstrand; Jens Lagergren; Nicolas Lartillot; Stockholms universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; Computational biology; Bioinformatics; Phylogenetics; Phylogenomics; Comparative genomics; Evolutionary biology; datalogi; Computer Science;

    Abstract : Species evolution can often be adequately described with a phylogenetic tree. Interestingly, this is the case also for the evolution of homologous genes; a gene in an ancestral species may – through gene duplication, gene loss, lateral gene transfer (LGT), and speciation events – give rise to a gene family distributed across contemporaneous species. READ MORE

  4. 17. Molecular and Clinical Characterization of Syndromes Associated With Intellectual Disability

    Author : Christian Wentzel; Ann-Charlotte Thuresson; Göran Annerén; Anita Rauch; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; intellectual disability; 22q11.2 duplication syndrome; 6q deletion; 6q duplication; 10p deletion; developmental delay; mental retardation; dysmorphic features; Medical Genetics; Medicinsk genetik;

    Abstract : Intellectual disability (ID) affects approximately 1-3% of the population and is defined as having an IQ below 70 as well as a significant limitation in adaptive behavior.The implementation of chromosomal microarrays (CMA) into the field of clinical genetics has revolutionized the ability to find genetic aberrations responsible for different genetic disorders. READ MORE

  5. 18. Assignment and assessment of orthology and gene function

    Author : Christian Storm; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Orthology; paralogy; homology; bootstrap; tree reconciliation; Pfam; functional annotation;

    Abstract : Several genomes from different species have been sequenced over the last years, most notably the human genome. An important task of computational biology is to classify and functionally annotate the large amount of sequence data created by the genome sequencing projects. READ MORE

  6. 19. Gene complexes and regulatory domains in metazoan genomes

    Author : Pär Engström; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Despite the recent massive increases in genome and transcript sequence data, including wholegenome sequences for humans and many other metazoans, our understanding of the content of these sequences is far from complete. This thesis is about making use of metazoan sequence data to detect functional genetic elements on a genome-wide scale and examine the distribution of those elements on chromosomes. READ MORE

  7. 20. Gene dose imbalances in children with mental retardation

    Author : Jacqueline Schoumans; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Mental retardation; MCA MR syndromes; cromosome abnormalities; subtelomeric FISH; comparative genomichybridization; array-CGH;

    Abstract : Submicroscopic chromosome aberrations can cause mental retardation (MR), congenital malformations and miscarriage. It is difficult to estimate the contribution of cytogenetic abnormalities to MR because of relatively low detection sensitivity of conventional cytogenetic methods used in the diagnostic setting. READ MORE