The influence of water and air temperature on elite wheelchair triathlon performance.

Impaired thermoregulatory function is a clinical feature of many health conditions that affect triathletes using wheelchairs and consequently, individual athlete performances may fluctuate according to environmental temperature. We aimed to determine the effect of 1) water temperature on wheelchair triathlon swim time and 2) air temperature on handcycle and wheelchair run (push) time. Published race records from 2017 to 2023 ( = 49 events) were extracted from the World Triathlon website.

Clinical RNA sequencing clarifies variants of uncertain significance identified by prior testing.

Purpose: Sequencing-based genetic testing often identifies variants of uncertain significance (VUS) or fails to detect pathogenic variants altogether. We evaluated the utility of RNA sequencing (RNA-seq) to clarify VUS or identify missing variants in a clinical setting.

Methods: Over a 2-year period, genetics providers at a single institution referred 26 cases for clinical RNA-seq.

3-hour genome sequencing and targeted analysis to rapidly assess genetic risk.

Purpose: Rapid genetic testing in the critical care setting may guide diagnostic evaluation, direct therapies, and help families and care providers make informed decisions about goals of care. We tested whether a simplified DNA extraction and library preparation process would enable us to perform ultra-rapid assessment of genetic risk for a Mendelian condition, based on information from an affected sibling, using long-read genome sequencing and targeted analysis.

Methods: Following extraction of DNA from cord blood and rapid library preparation, genome sequencing was performed on an Oxford Nanopore PromethION.

Mutagenesis Sensitivity Mapping of Human Enhancers .

Distant-acting enhancers are central to human development. However, our limited understanding of their functional sequence features prevents the interpretation of enhancer mutations in disease. Here, we determined the functional sensitivity to mutagenesis of human developmental enhancers .