Genetics

Ensembling Unets for Rare Chromosomal Aberration Detection in Metaphase Images, Uncertainty Quantification, and Ionizing Radiation Dose Estimation.

In biological dosimetry a radiation dose is estimated using the average number of chromosomal aberrations per peripheral blood lymphocytes. This analysis is still manually performed on 2D metaphase images depicting the 23 pairs of chromosomes because the false discovery rate of current automated detection systems is too high and variable because of sensitivity to small variations in image quality ...

Predicting oxygen levels in microbial habitats using a metagenome-based approach.

Oxygen is a primary driver of the distribution and activity of microbial life. Since oxygen levels are often difficult to measure in situ, one potential solution is to use bacteria as bioindicators of oxygen levels. As bacteria range from obligate aerobes to obligate anaerobes, quantification of bacterial community oxygen preferences could be used to infer variation in oxygen levels and bacterial ...

ML-Powered MultiFluid-mRNAplex31: A Self-Developed Panel for Precise Tracing of Five Body Fluids.

Identification of body fluid origin at crime scenes can help establish a link between the individual who sheds the sample and the criminal activity, t...

Bioacoustic processing and analyses of mouse vocalizations: current methods and future directions.

House mice (Mus musculus), like other rodents, communicate using sonic and ultrasonic vocalizations (USVs), but their functions are still poorly under...

Integration of multi-omics for precision therapy in breast cancer.

Breast cancer therapy is limited by heterogeneous tumor states and adaptive resistance that may be missed by single-layer biomarkers. This review focu...

Construction of a diagnostic model for nasopharyngeal carcinoma using a consensus machine learning approach and study of immune infiltration characteristics.

BACKGROUND: Nasopharyngeal carcinoma requires reliable diagnostic biomarkers due to its occult location and poor outcomes. METHODS: This study analyze...

Identification of compounds that repress DUX4 expression in facioscapulohumeral muscular dystrophy.

Facioscapulohumeral muscular dystrophy (FSHD) is caused by epigenetic dysregulation of the disease locus, leading to pathogenic misexpression of DUX4 ...

A 5mC-related gene signature predicts prognosis and therapy response in hepatocellular carcinoma.

Increasing evidence has highlighted the biological significance of 5-methylcytosine (5mC) DNA modification in regulating tumorigenesis and cancer prog...

Comparative genomics reveals the evolution of anthraquinone biosynthesis in Polygonaceae.

BACKGROUND: Polygonaceae is a globally distributed angiosperm family rich in anthraquinones (AQs), which contribute to diverse medicinal properties an...

Drug-induced multisystem syndromes: An overlooked challenge in pharmacovigilance.

BackgroundDrug-Induced Multisystem Syndromes (DIMS) represent a clinically significant yet under-recognized group of delayed immune-mediated adverse d...

Investigating Immune Microenvironment of Inflammatory Bowel Disease and the Mitochondrial Metabolism-Related Molecular Mechanisms: Combining a Multiomics Approach and Experimental Validation.

Inflammatory bowel disease (IBD) is a chronic and recurrent gastrointestinal disease, the pathogenesis of which has not been fully elucidated. Increas...

Dissecting PCD-driven molecular landscapes in AML: a multi-omic framework for prognostication and therapeutic targeting.

Acute myeloid leukemia (AML) remains a molecularly heterogeneous malignancy with poor prognosis, necessitating robust biomarkers for risk stratificati...

Machine learning-based identification of basement membrane-related signature to predict recurrence and immunotherapy benefit in bladder cancer.

The basement membrane (BM) plays a critical role in regulating bladder cancer (BC) progression. However, a BM-related signature for predicting BC recu...

Integrating machine learning-based molecular design with experimental validation for the discovery of EGFR inhibitors in lung cancer.

The emergence of drug resistance and off-target toxicities in epidermal growth factor receptor (EGFR) targeted therapies underscores the urgent need f...

Tree Killer, Qu'est-ce Que C'est? Insights From Forest Pathogen Genomes.

Forests are central to planetary health but are increasingly challenged by emerging diseases driven by climate change, global trade, and anthropogenic...

New Insights into Genomic Variations and Mutational Events Associated with Plant-Pathogen Interactions.

Plant diseases threaten global food security, causing up to 40% crop yield losses and more than $220 billion in annual economic damage. This review sy...

An Interpretable Deep Learning Framework Leveraging RNA Foundation Model and Capsule Networks for Accurate Prediction of RNA 2'-O-Methylation Sites.

RNA 2'-O-methylation (2OMe) is a widespread post-transcriptional modification that influences RNA stability, translation, and immune recognition. Yet,...

Trust, mistrust, and the promise of AI in genomics for African populations.

Artificial intelligence (AI) is rapidly reshaping genomic medicine, yet its benefits remain unevenly distributed due to the profound under-representat...

A myeloid immunosuppressive phenotype defines primary refractoriness to atezolizumab Plus bevacizumab in hepatocellular caarcinoma.

BACKGROUND: Despite improved outcomes with atezolizumab plus bevacizumab (A+B) in hepatocellular carcinoma (HCC), primary refractoriness (PRef), chara...

Synteny detection, visualization, and its trending applications.

Synteny detection analyses facilitate comparative genomics, especially when investigating gene duplications, genomic rearrangements, and ancient whole...