Sökning: "Exome"

Visar resultat 1 - 5 av 9 uppsatser innehållade ordet Exome.

  1. 1. Predicting Biomarkers/ Candidate Genes involved in iALL, using Rough Sets based Interpretable Machine Learning Model.

    Master-uppsats, Uppsala universitet/Institutionen för biologisk grundutbildning

    Författare :Girish Pulinkala; [2023]
    Nyckelord :Machine Learning; Cancer; Oncology; Acute Lymphoblastic Leukemia; Rough sets; Pathway analysis; Feature selection; Bioinformatics; Computational Biology.;

    Sammanfattning : Acute lymphoblastic leukemia is a hematological malignancy that gains a proliferative advantage and originates in the bone marrow. One of the more common genetic alterations in ALL is KMT2A-rearrangement which constitutes 80% of the cases of ALL in infants. LÄS MER

  3. 2. Implementing ExomeDepth with a variant filter as a CNV-calling tool for germline clinical diagnostic testing

    Magister-uppsats, Högskolan i Skövde/Institutionen för biovetenskap

    Författare :Alice Krysén; [2022]
    Nyckelord :;

    Sammanfattning : Copy number variations (CNVs) cover approximately 4.9 - 9.5% of the human genome. CNVs are involved in both the development of disease and evolutionary adaptions. LÄS MER

  4. 3. Surface Functionalization of Nanowires Using Silane-PEG Compounds

    Master-uppsats, Lunds universitet/Centrum för analys och syntes

    Författare :Hedvig Ekfors Elvin; [2022]
    Nyckelord :Functionalization; Nanowires; Silanization; Surface Chemistry; Materials Chemistry; Chemistry;

    Sammanfattning : Introduction: GaP nanowires were functionalized using silane-PEG-NH2 and compared with cellulose acetate, PAcrAm™-g-(PMOXA, amine, silane) and a non-functionalized reference sample. Functionalization would allow strong, covalent anchoring of antibodies instead of adsorption. LÄS MER

  5. 4. Detection of aberrant events in RNA for clinical diagnostics

    Master-uppsats, Uppsala universitet/Institutionen för biologisk grundutbildning

    Författare :Mei Wu; [2021]
    Nyckelord :rare; disease; clinical; bioinformatics; pipeline; analysis; variants; IDS; OPA3; wgs; transcriptome; rna; diagnosis;

    Sammanfattning : Rare diseases are estimated to affect 3.75% of the global population, which roughly translates to 300 million affected individuals. LÄS MER

  7. 5. A comparative validation of the human variant simulator SIMdrom

    Uppsats för yrkesexamina på avancerad nivå,

    Författare :Sofia Ånäs; [2017]
    Nyckelord :;

    Sammanfattning : The past decade’s progress in next generation sequencing has drastically decreased the price of whole genome and exome sequencing, making it available as a clinical tool for diagnosing patients with genetic disease. However, finding a disease-causing mutation among millions of non-pathogenic variants in a patient’s genome, is not an easy task. LÄS MER