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Antimicrobial peptides (AMPs) are key components of the innate immune system in fish, providing rapid protection against microbial pathogens. Among these, the liver‐expressed antimicrobial peptides (LEAPs), comprising LEAP‐1 (hepcidin; HAMP) and LEAP‐2, play central roles in host defence and iron regulation. In this study, we present an integrated characterisation of the genomic organisation, tissue expression and dietary resp...
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...
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...
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...
Methylation array signals are predictive of chronological age without bisulfite conversionNARA Subscribed
DNA methylation data has been used to make “epigenetic clocks” which attempt to measure chronological and biological aging. These models rely on data derived from bisulfite-based measurements, which exploit a semi-selective deamination and a genomic reference to determine methylation states. We found that non-methylation factors lead to “pseudomethylation” signals that are both confounding of epigenetic clocks and uniquely age...
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...
Remotely Sensed Fire Heterogeneity and Biomass Recovery Predicts Empirical Biodiversity ResponsesNARA Subscribed
Aim To compare field‐based evidence of plant and animal responses to fire with remotely sensed signals of fire heterogeneity and post‐fire biomass recovery. Location South‐eastern Australia; New South Wales. Time Period 2019–2022. Major Taxa Studied A total of 982 species of plants and animals, in eight taxonomic groups: amphibians, birds, fish, insects, mammals, molluscs, plants and reptiles. Methods We collated 545,223 plant...
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...
Hāpuku (Polyprion oxygeneios) is a promising candidate for aquaculture production in New Zealand. Methods for spawning, juvenile production, and growout to harvest entirely on land, where water quality, pathogens, environmental impacts, and genetic “pollution” can be tightly controlled, have been developed, and genetic improvement to optimise land-based production is the obvious next step. However, estimates of genetic paramet...