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Sökning: id:"swepub:oai:DiVA.org:kth-104438" > Analysis of genetic...

Analysis of genetic variations in cancer

Hasmats, Johanna, 1981- (författare)
KTH,Genteknologi,Science for Life Laboratory, SciLifeLab
Lundeberg, Joakim, Professor (preses)
KTH,Genteknologi
Daub, Carsten, Dr. (opponent)
Karolinska Institute, Department of Biosciences and Nutrition
 (creator_code:org_t)
ISBN 9789175014500
Stockholm : KTH Royal Institute of Technology, 2012
Engelska iii, 62 s.
  • Doktorsavhandling (övrigt vetenskapligt/konstnärligt)
Abstract Ämnesord
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  • The aim of this thesis is to apply recently developed technologies for genomic variation analyses, and to ensure quality of the generated information for use in preclinical cancer research.Faster access to a patients’ full genomic sequence for a lower cost makes it possible for end users such as clinicians and physicians to gain a more complete understanding of the disease status of a patient and adjust treatment accordingly. Correct biological interpretation is important in this context, and can only be provided through fast and simple access to relevant high quality data.Therefore, we here propose and validate new bioinformatic strategies for biomarker selection for prediction of response to cancer therapy. We initially explored the use of bioinformatic tools to select interesting targets for toxicity in carboplatin and paclitaxel on a smaller scale. From our findings we then further extended the analysis to the entire exome to look for biomarkers as targets for adverse effects from carboplatin and gemcitabine. To investigate any bias introduced by the methods used for targeting the exome, we analyzed the mutation profiles in cancer patients by comparing whole genome amplified DNA to unamplified DNA. In addition, we applied RNA-seq to the same patients to further validate the variations obtained by sequencing of DNA. The understanding of the human cancer genome is growing rapidly, thanks to methodological development of analysis tools. The next step is to implement these tools as a part of a chain from diagnosis of patients to genomic research to personalized treatment.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinsk bioteknologi -- Annan medicinsk bioteknologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Medical Biotechnology -- Other Medical Biotechnology (hsv//eng)

Nyckelord

Cancer
Mutations
Variations
Single Nucleotide Polymorphism
DNA
RNA
Genome
Massively Parallel Sequencing
Exome Sequencing
Toxicity

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