Essays about: "Exome"

Showing result 1 - 5 of 9 essays containing the word Exome.

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

    University essay from Uppsala universitet/Institutionen för biologisk grundutbildning

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

    Abstract : 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. READ MORE

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

    University essay from Högskolan i Skövde/Institutionen för biovetenskap

    Author : Alice Krysén; [2022]
    Keywords : ;

    Abstract : 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. READ MORE

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

    University essay from Lunds universitet/Centrum för analys och syntes

    Author : Hedvig Ekfors Elvin; [2022]
    Keywords : Functionalization; Nanowires; Silanization; Surface Chemistry; Materials Chemistry; Chemistry;

    Abstract : 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. READ MORE

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

    University essay from Uppsala universitet/Institutionen för biologisk grundutbildning

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

    Abstract : Rare diseases are estimated to affect 3.75% of the global population, which roughly translates to 300 million affected individuals. READ MORE

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

    University essay from

    Author : Sofia Ånäs; [2017]
    Keywords : ;

    Abstract : 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. READ MORE