Publications by authors named "S Storz"
Article Synopsis
- Current clinical testing for imprinting disorders is complicated and usually involves several tests to get a clear diagnosis.
- We explored the use of whole-genome long-read sequencing (LRS) as a single test to analyze different genetic variations and methylation patterns in individuals with Prader-Willi or Angelman syndrome.
- Our results showed that LRS can accurately diagnose these conditions efficiently and could simplify testing while lowering costs and speeding up results in clinical settings.
Article Synopsis
- * The 1000 Genomes Project and Oxford Nanopore Technologies are working together to produce LRS data from at least 800 samples to enhance the identification of genetic variations and better understand human genetic diversity.
- * Initial analysis of 100 samples shows high accuracy in detecting genetic variants, including structural variants that disrupt gene function, and provides valuable data for the clinical genetics community to advance research on pathogenic variations.
Article Synopsis
- * The 1000 Genomes Project ONT Sequencing Consortium is working to generate LRS data from at least 800 samples to better understand human genetic variation and improve variant detection.
- * Initial data from the first 100 samples show high accuracy in identifying structural variants and methylation signatures, creating a useful public resource for finding disease-related genetic changes.
Slow waves are an electrophysiological characteristic of non-rapid eye movement sleep and a marker of the restorative function of sleep. In certain pathological conditions, such as different types of epilepsy, slow-wave sleep is affected by epileptiform discharges forming so-called "spike-waves". Previous evidence shows that the overnight change in slope of slow waves during sleep is impaired under these conditions.
View Article and Find Full Text PDFSuperposition, entanglement and non-locality constitute fundamental features of quantum physics. The fact that quantum physics does not follow the principle of local causality can be experimentally demonstrated in Bell tests performed on pairs of spatially separated, entangled quantum systems. Although Bell tests, which are widely regarded as a litmus test of quantum physics, have been explored using a broad range of quantum systems over the past 50 years, only relatively recently have experiments free of so-called loopholes succeeded.
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