Sökning: "somatic genomic alterations"

Visar resultat 1 - 5 av 17 avhandlingar innehållade orden somatic genomic alterations.

  1. 1. Comprehensive analysis of structural genomic alterations in cancer : Computational approaches for identifying cancer driver events

    Författare :Babak Alaei-Mahabadi; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Somatic structural variations; viral integrations; gene fusions; somatic genomic alterations;

    Sammanfattning : The transformation of a normal cell into a cancer cell involves the accumulation of somatic DNA alterations that confer growth and survival advantages. These genomic alterations can be different in terms of pattern and size, comprising single nucleotide variants (SNVs), small insertions or deletions (indels), structural variations (SVs) or foreign DNA insertions such as viral DNA. LÄS MER

  3. 2. Prognostic and Predictive Somatic Mutations in Colorectal Cancer

    Författare :Luís Nunes; Tobias Sjöblom; Bengt Glimelius; Snehangshu Kundu; Ivaylo Stoimenov; Laura DeLong Wood; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; colorectal cancer; somatic mutations; next-generation sequencing; whole-genome sequencing; transcriptomics; targeted therapy; prognosis; Medicinsk vetenskap; Medical Science;

    Sammanfattning : Colorectal cancer (CRC) is the third most incident and the second deadliest cancer worldwide. Even though CRC incidence is strongly correlated with age, it has been increasing in developing countries and younger individuals. LÄS MER

  4. 3. Statistical assessment of genomic variability in tumours and bacterial communities

    Författare :Anna Rehammar; Chalmers tekniska högskola; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; somatic mutations; hierarchical Bayesian modelling; cancer genetics; high-throughput sequencing; metagenomics; personalised diagnostics;

    Sammanfattning : Current high-throughput DNA sequencing technologies have the ability to generate large amounts of high-resolution genomic data. The high dimensionality in combination with the substantial levels of technical errors and biological variability typically present in the data make, however, the analysis challenging. LÄS MER

  5. 4. Characterizing the spectrum of somatic alterations in canine and human cancers

    Författare :Sharadha Sakthikumar; Kerstin Lindblad-Toh; Richard Rosenquist Brandell; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; dog; osteosarcoma; hemangiosarcoma; glioblastoma; non-coding; whole-exome; whole-genome; sequencing; bioinformatics; comparative genetics.;

    Sammanfattning : Cancers arise as a result of deleterious somatic alterations accumulating in the genome during the process of cell division. These alterations arise either via exposure to mutagens or due to errors occurring during DNA replication. LÄS MER

  7. 5. Genetic Characterization and Identification of Novel Treatment Targets in Anaplastic Thyroid Carcinoma

    Författare :Naveen Ravi; Avdelningen för klinisk genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Anaplastic thyroid cancer; copy number alterations; somatic mutations; mutational signatures; DNA methylation analysis; Gene expression analysis;

    Sammanfattning : Anaplastic thyroid cancer (ATC) is a rare and highly aggressive thyroid malignancy, usually resistant to conventional therapeutic strategies. The prognosis of ATC is extremely poor with a median survival rate of 6 months. Current treatment therapy includes surgical resection in combination with external radiotherapy and chemotherapy. LÄS MER