Genetics

Cutaneous lymphomas - an update.

Primary cutaneous lymphomas (CL) and lymphoproliferative disorders (LPD) are heterogeneous T- and B-cell neoplasms defined by integrated clinical, histopathological, immunophenotypic and genetic criteria. The 5th edition of the WHO classifications of haematolymphoid and skin tumours and the International Consensus Classification incorporate recent clinicopathological and molecular advances. Former...

De novo design of RNA pseudoknots with deep learning.

RNA design has been hindered by the limited accuracy of three-dimensional (3D) structure prediction. In this study, we show that intricate RNA structures can be generated with current deep learning tools through accurate de novo design of pseudoknot secondary structures. In an Eterna competition involving 57 pseudoknots, generative artificial intelligence (AI) methods matched experienced human des...

The knotty problem of RNA structure prediction.

Artificial intelligence enables the design of RNA pseudoknots.

Deep molecular profiling of lung neuroendocrine tumours and supra-carcinoids.

BACKGROUND: Lung neuroendocrine tumours (NETs, also known as carcinoids) are rapidly rising in incidence worldwide but have unknown aetiology and limi...

Identification of Vital Genes Common to Dilated and Hypertrophic Cardiomyopathy Using Machine Learning and Bioinformatics.

BACKGROUND: Heart failure (HF) is a complex clinical syndrome and a leading cause of hospitalization and mortality worldwide, with significantly incre...

Leveraging synthetic and genetic data to improve epidemic forecasting.

Forecasting infectious disease outbreaks is hard. Forecasting emerging infectious diseases with limited historical data is even harder. In this paper,...

Glycosylation-Associated Macrophage Signatures Define a Diagnostic Model for Diabetic Retinopathy via Single-Cell Analysis.

PURPOSE: Diabetic retinopathy (DR) remains a leading cause of vision loss, with macrophages and glycosylation dysregulation implicated in DR pathogene...

RIBOTAC-mediated degradation of hsa-microRNA-301a-3p suppresses TNBC bone metastasis.

Triple-negative breast cancer (TNBC) is an aggressive subtype with a high propensity for bone metastasis and limited treatment options. Although many ...

Translating evolutionary history and protein-focused machine learning supports increased prevalence of hereditary haemorrhagic telangiectasia, one of the most common inherited disorders.

BACKGROUND: Recent genetic data suggest hereditary haemorrhagic telangiectasia (HHT) is 2-12 times more common than the clinically-ascertained prevale...

AWTI-Net Enables Accurate and Interpretable Functional Assessment of Disease-Associated LncRNA Mutations.

Long non-coding RNA (lncRNA) variants contribute to human disease, yet systematic evaluation of their functional impact is limited by the lack of high...

DeepPathway: Predicting Pathway Expression from Histopathology Images.

MOTIVATION: Spatial transcriptomics (ST) technologies provide spatially resolved gene expression along with image data, allowing the integrative analy...

Can host genetics transform the sustainable control of tropical theileriosis? Insights from the Tick-Theileria interface.

Tropical theileriosis, caused by the tick-transmitted apicomplexan parasite Theileria annulata, remains a major constraint on cattle production across...

Predicting transcriptional regulators in plants in the era of artificial intelligence.

Identifying transcriptional regulators that control important biological pathways in plants is fundamental to understanding regulatory mechanisms, net...

SeqQC-former: A sequence-quality fusion framework for QC-aware review prioritization of candidate somatic SNVs in cancer genomics.

The accurate prioritization of candidate somatic single-nucleotide variants (SNVs) remains a challenge due to the substantial variability in sequencin...

RNA biosensors in oncology: Mechanisms, Cancer-specific applications, and a Hallmark-aligned clinical roadmap.

Cancer diagnosis continues to rely on invasive tissue sampling and static molecular assessments that cannot reflect the real time RNA alterations driv...

Clinical significance of lncRNA-miRNA axes in ischemic stroke: Diagnostic value, prognostic relevance, and therapeutic potential.

Ischemic stroke and subsequent reperfusion injury are major causes of mortality and long-term neurological disability, driven by complex mechanisms of...

Associations between human oxytocin receptor gene promoter DNA methylation and brain structural connectome in panic disorder in Korea.

AIMS: Epigenetic regulation of the oxytocin receptor gene (OXTR), particularly DNA methylation (DNAm), has been linked to insecure attachment, anxiety...

MicroRNAs as novel therapeutics against multidrug-resistant ESKAPE pathogens: mechanisms, challenges, and future directions.

BACKGROUND: Multidrug-resistant (MDR) ESKAPE pathogens, including Enterococcus faecium, S. aureus, Klebsiella pneumoniae, Acinetobacter baumannii, P. ...

Architectural logic of the 3D genome: mechanisms of dysregulation and emerging cancer therapeutics.

The three-dimensional (3D) genome provides an essential layer of organization that shapes genome function in space and time. Chromatin compartments an...

Ultrafast and reference-free sequence discovery in single-cell data.

Knowledge of RNA sequences, expression, splicing, isoforms, structure and modifications is central for understanding and targeting cellular processes....