Publications by authors named "R Lehtonen"
Article Synopsis
- Visualization is crucial for genomic data analysis, but many existing tools require significant programming skills, especially for interactive applications, highlighting a need for more user-friendly solutions.
- GenomeSpy is introduced as a grammar-based toolkit that allows users to easily create interactive visualizations using a declarative approach, enhancing accessibility without needing extensive programming knowledge.
- The toolkit significantly improves performance during genomic analysis by utilizing graphics processing units, and it has been successfully applied to analyze ovarian cancer samples, providing valuable insights into chromosomal instability.
Article Synopsis
- * Whole-genome sequencing of cancer samples revealed a higher mutation burden in wood dust-exposed individuals, particularly in ITAC cases, with ROS damage signatures and specific genetic variations noted.
- * The study highlights different mutational patterns between ITAC and non-ITAC, suggesting the potential for using these patterns to document occupational cancer risks, although the mechanisms of wood dust-related tumorigenesis remain unclear.
Gene fusions are common in high-grade serous ovarian cancer (HGSC). Such genetic lesions may promote tumorigenesis, but the pathogenic mechanisms are currently poorly understood. Here, we investigated the role of a PIK3R1-CCDC178 fusion identified from a patient with advanced HGSC.
View Article and Find Full Text PDFAdverse effects are the major limiting factors in combinatorial chemotherapies. To identify genetic associations in ovarian cancer chemotherapy-induced toxicities and therapy outcomes, we examined a cohort of 101 patients receiving carboplatin-paclitaxel treatment with advanced high-grade serous ovarian cancers. Based on literature and database searches, we selected 19 candidate polymorphisms, designed a multiplex single nucleotide polymorphism-genotyping assay and applied Cox regression analysis, case-control association statistics and the log-rank Mantel-Cox test.
View Article and Find Full Text PDFBackground: Detailed characterization of early pathophysiological changes in preclinical Alzheimer's disease (AD) is necessary to enable development of correctly targeted and timed disease-modifying treatments. ASIC-E4 study ("Beta-Amyloid, Synaptic loss, Inflammation and Cognition in healthy ε4 carriers") combines state-of-the-art neuroimaging and fluid-based biomarker measurements to study the early interplay of three key pathological features of AD, i.e.
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