Sökning: "indels"

Visar resultat 1 - 5 av 10 uppsatser innehållade ordet indels.

  1. 1. A Rank Score Model of Variants Prioritization for Rare Disease

    Master-uppsats, Uppsala universitet/Institutionen för biologisk grundutbildning

    Författare :Nanxing Liu; [2023]
    Nyckelord :machine learning; variants; rare disease;

    Sammanfattning : The diagnosis of genetic illnesses has undergone a revolution with advancements in sequencing technology. Next-generation sequencing (NGS) has become a standard practice in genetic diagnostics, enabling the identification of various genetic variations. LÄS MER

  3. 2. 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

  4. 3. Validation of a Next Generation Sequencing based method for chimerism analysis in clinical practice

    Kandidat-uppsats, Uppsala universitet/Institutionen för medicinsk cellbiologi

    Författare :Maria Högberg; [2022]
    Nyckelord :Devyser chimerism; fragment analysis; hematopoietic stem cell transplantation; short tandem repeats; indels;

    Sammanfattning : Hematopoietic stem cell transplantation (HSCT) is used to treat patient with hematological diseases such as leukemia and genetic conditions such as sickle cell anemia. After HSCT the patients are supervised for signs of relapse of disease or rejection of transplanted cells. This is done by using chimerism analysis. LÄS MER

  5. 4. Studying genetics of leaf shape variation in Arabidopsis lyrata

    Kandidat-uppsats, Umeå universitet/Institutionen för ekologi, miljö och geovetenskap

    Författare :Carina Kvernes Macpherson; [2019]
    Nyckelord :Arabidopsis lyrata; Arabidopsis arenosa; leaf shape; RCO genes; genotype; phenotype; gene sequence variation;

    Sammanfattning : The relationship between leaf and its environment has resulted in a tremendous diversification of leaf shape within and between plants species, which is important to cope with the differing environmental conditions. Arabidopsis lyrata is a prime model plant that shows leaf shape variation within species and between related species. LÄS MER

  7. 5. Identifying esophageal atresi associated variants from whole genome sequencing data

    Uppsats för yrkesexamina på avancerad nivå, Uppsala universitet/Institutionen för immunologi, genetik och patologi

    Författare :Jonas Mattisson; [2018]
    Nyckelord :;

    Sammanfattning : Knowing the underlying cause of a genetic disorder could not only further our understanding of the disease itself, and the otherwise healthy mechanism that is disrupted. It could potentially improve people’s lives. LÄS MER