Sökning: "exome"

Visar resultat 1 - 5 av 78 avhandlingar innehållade ordet exome.

1. 1. Analysis of inherited and somatic variants to decipher canine complex traits

   Författare :Kate Megquier; Kerstin Lindblad-Toh; Ingegerd Elvers; David Sargan; Uppsala universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; dog; genetics; GWAS; exome; cancer; DM;

   Sammanfattning : This thesis presents several investigations of the dog as a model for complex diseases, focusing on cancers and the effect of genetic risk factors on clinical presentation.In Papers I and II, we performed genome-wide association studies (GWAS) to identify germline risk factors predisposing US golden retrievers to hemangiosarcoma (HSA) and B-cell lymphoma (BLSA). LÄS MER

3. 2. Genetic Aspects of Endocrine Tumorigenesis : A Hunt for the Endocrine Neoplasia Gene

   Författare :Alberto Delgado Verdugo; Peyman Björklund; gunnar westin; Per Hellman; Filip Farnebo; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Exome sequencing; SDHAF2; epigenetics; methylation; methylation array; Sanger sequencing; pheochromocytoma; SI-NETs; carcinoid; oncology; endocrine surgery; parathyroid; Genetics; Genetik; Kirurgi; Surgery;

   Sammanfattning : Endocrine tumors arise from endocrine glands. Most endocrine tumors are benign but malignant variants exist. Several endocrine neoplasms display loss of parts of chromosome 11 or 18, produce hormones and responds poorly to conventional chemotherapeutics. The multiple endocrine neoplasia syndromes are mainly confined to endocrine tumors. LÄS MER

4. 3. Analysis of genetic variations in cancer

   Författare :Johanna Hasmats; Joakim Lundeberg; Carsten Daub; KTH; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Cancer; Mutations; Variations; Single Nucleotide Polymorphism; DNA; RNA; Genome; Massively Parallel Sequencing; Exome Sequencing; Toxicity;

   Sammanfattning : 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. LÄS MER

5. 4. Hereditary Colorectal Cancer; Identification, Characterization and Classification of Mutations

   Författare :Anna Rohlin; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Hereditary Colorectal cancer; FAP; AFAP; mutations; mosaic mutation; exome sequencing; massively parallel sequencing; next generation sequencing; atypical polyposis; APC; POLE; GREM1; PPAP;

   Sammanfattning : Hereditary factors are thought to play are role in 20-30% of all colorectal cancers Around 6% are found as high penetrant disease-causing mutations in genes correlated to hereditary polyposis or hereditary non-polyposis syndromes. The aim of this thesis was to identify new causative genes and variants and also mutation mechanisms in families presenting a polyposis, atypical polyposis or nonpolyposis CRC phenotype. LÄS MER

7. 5. Statistical assessment of somatic mutations and genomic variability using DNA sequence data

   Författare :Anna Rehammar; Göteborgs universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; DNA sequence data; exome sequencing; calling of somatic mutations; metagenomics; hierarchical Bayesian model; genomic variability; calling of somatic mutations;

   Sammanfattning : The development of new DNA sequencing techniques have made it possible to generate high-resolution genomic data at an unprecedented pace. However, the high dimensionality in combination with the substantial levels of technical errors and biological variability make the analysis challenging. LÄS MER