Sökning: "Mutation detection"

Visar resultat 16 - 20 av 114 avhandlingar innehållade orden Mutation detection.

1. 16. Mutation Testing: Fewer, Faster, and Smarter

   Författare :Sten Vercammen; Programvaruteknik; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES;

   Sammanfattning : The growing reliance on automated software tests raises a fundamental question: How trustworthy are these automated tests? Today, mutation testing is acknowledged within academic circles as the most promising technique for assessing the fault-detection capability of a test suite. The technique deliberately injects faults (called mutants) into the production code and counts how many of them are caught by the test suite. LÄS MER

3. 17. Machine Learning Methods for Image Analysis in Medical Applications, from Alzheimer's Disease, Brain Tumors, to Assisted Living

   Författare :Chenjie Ge; Chalmers tekniska högskola; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; convolutional neural networks; Alzheimer s disease detection; machine learning; deep learning; fall detection; glioma subtype classification; generative adversarial networks; recurrent convolutional networks; spiking neural networks; visual prosthesis; semi-supervised learning;

   Sammanfattning : Healthcare has progressed greatly nowadays owing to technological advances, where machine learning plays an important role in processing and analyzing a large amount of medical data. This thesis investigates four healthcare-related issues (Alzheimer's disease detection, glioma classification, human fall detection, and obstacle avoidance in prosthetic vision), where the underlying methodologies are associated with machine learning and computer vision. LÄS MER

4. 18. 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

5. 19. Expression and Mutation Analyses of Candidate Cancer Genes In Situ

   Författare :Sara Kiflemariam; Tobias Sjöblom; Fredrik Pontén; Mef Nilbert; Uppsala universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; cancer; in situ; in situ hybridization; padlock probes; mRNA; tyrosine kinases; tyrosine phosphatases; fusion transcripts;

   Sammanfattning : Cancers display heterogeneity in genetic profiles of the individual cancer cells and in the composition of different malignant and non-malignant cell populations. Such intra-tumor heterogeneity plays a role in treatment response and the emergence of resistance to cancer therapies. LÄS MER

7. 20. Phenotypes and genotypes in families with hereditary tapetoretinal degenerations

   Författare :Vesna Ponjavic; Lund Oftalmologi; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; peripherin.; rhodopsin; cone-rod dystrophy; retinitis pigmentosa; choroideremia; central areolar choroidal dystrophy; mutation screening; full-field electroretinography; Phenotype; genotype; Ophtalmology; Oftalmologi;

   Sammanfattning : The purpose of the study was to characterise the phenotype with emphasis on electroretinography in four different types of hereditary retinal degeneration and to correlate it to a genotype when possible. Two methods were used: full-field electroretinography for objective assessment of retinal function and mutation screening of blood samples for detection of gene alterations. LÄS MER