Avancerad sökning

Hittade 3 avhandlingar som matchar ovanstående sökkriterier.

  1. 1. Tools and pipelines for interpreting the impacts of genetic variants

    Författare :Abhishek Niroula; Proteinbioinformatik; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Bioinformatics; Genetic variants; Machine Learning; cancer genomics; Variation interpretation;

    Sammanfattning : Next generation sequencing (NGS) methods have been widely used for diagnosis. As time and cost of sequencing has reduced sharply during the last decade, genome and exome-wide sequencing have increasingly been used. LÄS MER

  3. 2. Tools and annotations for variation

    Författare :Gerard C.P. Schaafsma; Proteinbioinformatik; []
    Nyckelord :Annotation; genetic variation; benchmarks; databases; disease groups; pathogenicity; proteins; representativeness; sensitivity; variant effect analysis;

    Sammanfattning : Since the finishing of the Human Genome Project, many next-generation (NGS) or high-throughput sequencing platforms have emerged. One of the applications of NGS technology, variant discovery, can serve as a basis for precision medicine. LÄS MER

  4. 3. Computational analysis on the effects of variations in T and B cells. Primary immunodeficiencies and cancer neoepitopes

    Författare :Gabriel Ndipagbornchi Teku; Proteinbioinformatik; []
    Nyckelord :Network topology; Network dynamics; network modeling; Network Simulation; T cells; B cells; Neoepitopes; Neoantigens; cancer;

    Sammanfattning : Computational approaches are essential to study the effects of inborn and somatic variations. Results from such studies contribute to better diagnosis and therapies. Primary immunodeficiencies (PIDs) are rare inborn defects of key immune response genes. Somatic variations are main drivers of most cancers. LÄS MER