2 research outputs found
Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature
BACKGROUND: We previously associated HIST1H1E mutations causing Rahman syndrome with a specific genome-wide methylation pattern. RESULTS: Methylome analysis from peripheral blood samples of six affected subjects led us to identify a specific hypomethylated profile. This "episignature" was enriched for genes involved in neuronal system development and function. A computational classifier yielded full sensitivity and specificity in detecting subjects with Rahman syndrome. Applying this model to a cohort of undiagnosed probands allowed us to reach diagnosis in one subject. CONCLUSIONS: We demonstrate an epigenetic signature in subjects with Rahman syndrome that can be used to reach molecular diagnosis
Safety and Reliability - Safe Societies in a Changing World
The contributions cover a wide range of methodologies and application areas for safety and reliability that contribute to safe societies in a changing world. These methodologies and applications include: - foundations of risk and reliability assessment and management
- mathematical methods in reliability and safety
- risk assessment
- risk management
- system reliability
- uncertainty analysis
- digitalization and big data
- prognostics and system health management
- occupational safety
- accident and incident modeling
- maintenance modeling and applications
- simulation for safety and reliability analysis
- dynamic risk and barrier management
- organizational factors and safety culture
- human factors and human reliability
- resilience engineering
- structural reliability
- natural hazards
- security
- economic analysis in risk managemen