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Lynch syndrome caused by a pathogenic SINE-VNTR-Alu (SVA) insertion in MSH2 gene identified by long-read DNA sequencingNARA Subscribed
Lynch syndrome, the most common hereditary cancer syndrome, is caused by germline pathogenic variants in DNA mismatch repair (MMR) genes. Identifying complex or structural MMR gene pathogenic variants can be challenging with short-read sequencing resulting in patients with unexplained MMR-deficient tumours. In this study, we report multiple members of a family who developed MSH2-deficient tumours where clinical multi-gene pane...
Freshwater fish invasions are major drivers of global ecological change, disrupting native biodiversity and ecosystem functions. However, many invasive fish hold significant socioeconomic value, resulting in conflict over their management. Centrarchidae, which are globally distributed and are important for sportfishing and aquaculture, are now potentially becoming a global threat. Yet, no comprehensive appraisal exists across...
A candidate gene marker at the red kidney color locus (Rk) enables the development of slow-darkening pink beansNARA Subscribed
Key message Identification of Rk candidate gene and diagnostic markers enabled precise introduction of the slow‑darkening (SD) allele into pink beans, producing stable SD phenotypes and expanding breeding utility across market classes. Abstract Common bean ( Phaseolus vulgaris L.) is a globally important and nutritious crop with diverse market classes. Multiple genes control the seed coat color and patterns that characterize t...
Endemic species with narrow ranges are vulnerable to extirpation, and understanding their habitat needs is fundamental to effective management. The Etowah Bridled Darter, Percina freemanorum , is a recently described fish species endemic to the Upper Etowah River in Georgia. Little is known about how its habitat requirements differ from its sister taxon, P. kusha, with which it was previously synonymous . Our objectives were t...
Geospatial heterogeneity of hotspots for incidence and late-stage diagnosis of breast, colorectal, and lung cancerNARA Subscribed
Purpose Cancer control relies on the identification of populations at risk (hotspots) of new or late-stage cancer diagnoses. However, the extent to which hotspots differ between cancer sites or between outcome measures has been poorly characterized. We sought to determine the geospatial heterogeneity of hotspots of breast, colorectal, and lung cancer incidence and late-stage diagnoses. Methods We identified adult patients diag...
Modeling of gene regulatory networks: an annotated glossaryNARA Subscribed
Beyond the Surface: Non-Invasive Low-Field NMR Analysis of Microbially-Induced Calcium Carbonate Precipitation in Shale FracturesNARA Subscribed
Microbially-induced calcium carbonate precipitation (MICP) is a biological process in which microbially-produced urease enzymes convert urea and calcium into solid calcium carbonate (CaCO 3 ) deposits. MICP has been demonstrated to reduce permeability in shale fractures under elevated pressures, raising the possibility of applying this technology to enhance shale reservoir storage safety. For this and other applications to bec...
Interpretable deep learning reveals spatiotemporal MRI features of brain aging that align with neurodegenerationNARA Subscribed
Cortical thinning and atrophy are hallmarks of brain aging that have been characterized using magnetic resonance imaging (MRI). Brain aging involves many neuroanatomic features whose effects on brain structure remain unexplored. To address this challenge, we trained interpretable deep neural networks (DNNs) to estimate brain age (BA) from T 1 -weighted ( T 1 w) MRI. By identifying MRI features unapparent to humans, DNNs can fi...
Ecology of community reassembly: Movements and diets of megafauna during a decade of restoration in MozambiqueNARA Subscribed
The last decade has brought a worldwide surge of interest in rewilding—the repopulation of large herbivores and carnivores—as a strategy for conserving species and reviving ecosystem functions. Rewilding initiatives, if closely monitored, can provide unique insights into the ecology of the world's largest animals at otherwise impossible spatial and temporal scales. Capitalizing on these opportunities, and developing a knowledg...
A Modular Computational Approach for Assessing Active and Passive Force Contributions in Interstitial Lymphatic Fluid UptakeNARA Subscribed
Purpose The lymphatic system regulates fluid homeostasis, yet the relative roles of active vessel pumping, external mechanical forces, and lymphatic vessel/interstitium material properties on lymphatic uptake remain unclear. We sought to quantify how each factor affects lymphatic drainage. Method We developed a bond-graph-based computational framework for modelling initial lymphatic uptake. Two networks, a simple 7-branch and...
Logging intensity alters tree species composition and wood density, but not tree diversity, in lowland forests in VietnamNARA Subscribed
Tropical forests host considerable biodiversity but face degradation from timber extraction (“logging”). We examined how logging intensity affected tree diversity, species composition, community wood density and availability of timber species in a lowland forest in north-central Vietnam. We measured and identified trees in 18 quarter-hectare plots that vary in historical logging intensity. Tree diversity showed no significant...