Sökning: "Copy number variation"

Visar resultat 1 - 5 av 9 uppsatser innehållade orden Copy number variation.

  1. 1. Detecting structural variants in the DNA of the inbred Scandinavian wolf

    Master-uppsats, Uppsala universitet/Institutionen för biologisk grundutbildning

    Författare :Lars Huson; [2023]
    Nyckelord :animal; animal population; bioinformatics; biological sciences; biology; Canis lupus; CNV; conservation genetics; conservation genomics; copy-number variation; DNA; endangered population; endangered species; evolution; evolutionary biology; extinction; genetic diversity; genetics; genetic variation; genomes; genomics; grey wolf; inbreeding; inbreeding depression; indel; mutation; pedigree; population genetics; population genomics; Scandinavia; smoove; snakemake; structural variant; SV; wolf; wolves;

    Sammanfattning : Only 40 years ago, just three individuals made the journey from Finland/Russia to found the current wolf population in the southwest of Sweden. This population, that to this date descends from less than 10 founders, has a substantial increased extinction risk due to inbreeding. LÄS MER

  3. 2. The relative contribution of CNVs and SNPs to local adaptation in Norway spruce (Picea abies)

    Master-uppsats, Uppsala universitet/Växtekologi och evolution; Uppsala universitet/Institutionen för biologisk grundutbildning

    Författare :Yuxuan Niu; [2022]
    Nyckelord :CNVs; SNPs; Norway spruce; local adaptation;

    Sammanfattning : In the current environment of severe climate change, studying the adaptability of Norway spruce to the environment, that is, local adaptation is of great significance for helping to protect forest tree species and genetic breeding. As a structural variation, copy number variations (CNVs) have been proved to play an important role in shaping population structure and local adaptation in marine species, going beyond traditional studies focusing only on SNPs. LÄS MER

  4. 3. Antibiotic-Regulated Plasmid Copy Number Variation: A Driver of Antibiotic Resistance?

    Master-uppsats, Uppsala universitet/Institutionen för medicinsk biokemi och mikrobiologi

    Författare :Ahmed Eldek; [2019]
    Nyckelord :antibiotic resistance; plasmid copy number; ddPCR;

    Sammanfattning : Plasmids are small circular DNA molecules within bacterial cells that are separated from the bacterial chromosome and replicate independently. Also, they play a crucial role in the dissemination of antibiotic resistance genes among bacteria through horizontal gene transfer. LÄS MER

  5. 4. Optimization of pyrosequencing method for copy number analysis of CYP2D6

    Uppsats för yrkesexamina på grundnivå, Uppsala universitet/Institutionen för kvinnors och barns hälsa

    Författare :Stefan Carls; [2017]
    Nyckelord :Cytochrome P 450; pharmacogenomics; sequence analysis; alleles; phenotype;

    Sammanfattning : CYP2D6, a member of the cytochrome P450 enzyme system, has a central role in drug metabolism, it metabolizes 25 % of clinically used drugs. The gene that codes for the enzyme displays a high degree of polymorphism, which effects enzyme functions to various degrees. LÄS MER

  7. 5. Karakterisering av genetiska riskfaktorer för dilaterad kardiomyopati hos hund

    Master-uppsats, SLU/Dept. of Animal Breeding and Genetics

    Författare :Sofia Jankulovska; [2017]
    Nyckelord :dilaterad kardiomyopati; hund; grand danois; newfoundlandshundar; genetisk associationsstudie; next-generation sequencing; digitalPCR; genetiska riskfaktorer; dilated cardiomyopathy; canine; grand danois; Newfoundlands dogs; genome-wide association studies; next-generation sequencing; digitalPCR; genetic risk factors;

    Sammanfattning : Dilaterad kardiomyopati (DCM), är en hjärtsjukdom som förekommer hos ett flertal hundraser. Etiologin är inte fastställd. Genetiska studier på hund visar att gener involverade i utvecklandet av DCM skiljer sig åt mellan olika hundraser. LÄS MER