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Motivation The database initiated by the Mountain Invasion Research Network (MIREN) is one of the few globally implemented standardized vegetation surveys in mountains. The focus is on collecting plant species occurrences at 5‐year intervals along and adjacent to mountain roads spanning elevational gradients, with the goal of providing critical information about the ongoing spread of non‐native plants and the potential impacts...
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...
Diagnosing Linearity Along the Carbon Cascade in Terrestrial Biosphere Models and ObservationsNARA Subscribed
Elevated carbon dioxide (eCO 2 ) acts as a fertiliser for photosynthesis, driving an increase in gross primary production (GPP). However, it is unclear how effectively increased GPP propagates along the ‘carbon (C) cascade’ to increase net primary production (NPP) and vegetation C stocks ( C veg ) in different plant compartments. Vegetation models were criticised for being overly sensitive to photosynthesis (source‐driven), ne...
The 2022 eruption of Mauna Loa, Hawaiʻi: a synoptic and retrospective overview of the eruptionNARA Subscribed
Mauna Loa volcano erupted on November 27, 2022, after 38 years of quiescence, marking the first eruption of the world’s largest active volcano since 1984. Precursory activity was characterized by escalating seismicity and ground deformation, with increased unrest beginning in mid-September 2022. At 22:24 HST, tilt and seismic alarms alerted Hawaiian Volcano Observatory staff to escalating activity, signaling an imminent erupti...
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...
Genetic variation in three endangered allopolyploid Lepidium species was assayed using amplicon sequencing of 16 nuclear genesand phylogenetic analysis to distinguish ortholog/paralog (homoeolog) relationships. After phylogenetic analysis, the 16 sets of gene sequences were scored as co‐dominant alleles at a total of 55 putative loci in the target species L. kirkii , L. sisymbrioides , and L. solandri . Lepidium kirkii has per...
Alzheimer’s disease (AD) disproportionately affects women and carriers of the apolipoprotein E ε4 allele (APOE4), yet little is known about how sex and APOE interact to influence white matter (WM) integrity during disease progression. We integrated diffusion MRI and matched blood transcriptomic data to investigate these interactions and their underlying biological mechanisms. WM microstructure was quantified using diffusion te...
The germline MLH1 c.-42 C > T (rs41285097) promoter variant has been identified in cases with MLH1-deficient colorectal or endometrial cancers but remains a variant of uncertain significance. Genetic testing identified two new MLH1 c.-42 C > T index cases from Australia and the USA. Clinicopathologic and molecular characterisation of tumour and non-neoplastic tissues was performed to investigate the potential mechanism of path...
Turnover in species composition often lags behind the pace of climate change, resulting in mismatches between climate and communities. However, the impact of these community‐climate disequilibria on ecosystem functions is rarely considered, and current methods for measuring disequilibria assume that species ranges were, until recently, in equilibrium with climate. Here, we develop a simple theoretical model to address both of...
The ocean plays an essential role in regulating Earth’s climate, influencing weather conditions, providing sustenance for large populations, moderating anthropogenic climate change, encompassing massive biodiversity, and sustaining the global economy. Human activities are changing the oceans, stressing ocean health, threatening the critical services the ocean provides to society, with significant consequences for human well-be...
Predicting the progression of MCI and Alzheimer’s disease on structural brain integrity and other features with machine learningNARA Subscribed
Machine learning (ML) on structural MRI data shows high potential for classifying Alzheimer’s disease (AD) progression, but the specific contribution of brain regions, demographics, and proteinopathy remains unclear. Using Alzheimer’s Disease Neuroimaging Initiative (ADNI) data, we applied an extreme gradient-boosting algorithm and SHAP (SHapley Additive exPlanations) values to classify cognitively normal (CN) older adults, th...
Approximately 30% of sebaceous skin lesions (or sebaceous neoplasia) demonstrate DNA mismatch repair (MMR)-deficiency. MMR-deficiency can be caused by Lynch syndrome, resulting from germline pathogenic variants in the DNA MMR genes MLH1 , MSH2 , MSH6 and PMS2 , but other causes include somatic MLH1 gene promoter hypermethylation, constitutional MLH1 gene promoter hypermethylation ( MLH1 epimutation), or biallelic somatic MMR g...
Global Marine Flyways Identified for Long‐Distance Migrating Seabirds From Tracking DataNARA Subscribed
Aim To identify the broad‐scale oceanic migration routes (‘marine flyways’) used by multiple pelagic, long‐distance migratory seabirds based on a global compilation of tracking data. Location Global. Time Period 1989–2023. Major Taxa Studied Seabirds (Families: Phaethontidae, Hydrobatidae, Diomedeidae, Procellariidae, Laridae and Stercorariidae). Methods We collated a comprehensive global tracking dataset that included the mig...
SNAPSHOT USA 2019–2023: The First Five Years of Data From a Coordinated Camera Trap Survey of the United StatesNARA Subscribed
Motivation SNAPSHOT USA is an annual, multicontributor camera trap survey of mammals across the United States. The growing SNAPSHOT USA dataset is intended for tracking the spatial and temporal responses of mammal populations to changes in land use, land cover and climate. These data will be useful for exploring the drivers of spatial and temporal changes in relative abundance and distribution, as well as the impacts of specie...