Sökning: "Chromosome architecture"

Visar resultat 11 - 15 av 23 avhandlingar innehållade orden Chromosome architecture.

  1. 11. Complex genomic rearrangements in rare brain disorders : genetic architecture and molecular consequences

    Författare :Jakob Schuy; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Structural variants (SVs) within the genome, such as deletions, duplications, inversions, and translocations, are common but underappreciated causes of rare diseases. Complex genomic rearrangements involving two or more SVs in cis are incredibly challenging to detect. LÄS MER

  3. 12. Methods development for the investigation of the mammalian genome radial architecture : the quantitative side

    Författare :Gabriele Girelli; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : The nucleus of mammalian cells cradles the genome, an ensemble of nucleic acid macromolecular polymers that store information in a physical form. For a cell to perform life-sustaining processes, reading and utilizing the information encoded in the genome monomers’ sequence is necessary. LÄS MER

  4. 13. Evolutionary dynamics of migration and breeding in wild birds: genetic architecture, sexual conflicts and evolutionary constraints

    Författare :Maja Tarka; Biologiska institutionen; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; quantitative genetics; heritability; intralocus sexual conflict; antagonistic selection; QTL; G-matrix; wing length; arrival date; migration; geolocator; bird; Acrocephalus arundinaceus;

    Sammanfattning : Our knowledge of the evolutionary potential of traits involved in different selective episodes, especially in natural populations, is still limited. This is true for questions such as the genetic basis and inheritance of traits, how natural and sexual selection acts on them, and how selective conflicts influence the evolutionary response to selection. LÄS MER

  5. 14. Genetic analysis of autoimmune and metabolic traits in chickens

    Författare :Weronica Ek; Sveriges lantbruksuniversitet; Sveriges lantbruksuniversitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES;

    Sammanfattning : Studying how changes in DNA affect organisms and gene functions, can give us an increased understanding of the genetic regulation of diseases and metabolic traits. Chickens and other farm animals have long been used as a tool to study human diseases and other complex traits since they provide an excellent opportunity to study these traits in a controlled environment. LÄS MER

  7. 15. Bioinformatic analyses of the structural and functional complexity in chromosomal interactomes

    Författare :Alejandro Fernandez Woodbridge; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Evolution requires information storage systems with different demands with respect to persistence. While the genome provides a mechanism for long term, static and accurate information storage, it is incapable of mediating adaptation to short term changes in the environment. LÄS MER