Genetics

Physiological Signals as a Forensic Modality for Talking-Face Deepfake Detection

Talking-face (TF) deepfake generation synthesizes photore- alistic facial video from a static source image and an au- dio signal, producing forgeries that current image-based detectors consistently fail to identify. Unlike face-swap ma- nipulation, TF synthesis has no underlying real video from which to inherit physiological characteristics, making re- mote photoplethysmography (rPPG) a uniquely m...

Beyond the Static Caliper: Dynamical Translocases and the Mathematical Imperative for Single-Molecule Proteomics

The advent of single-molecule nanopore sequencing established a powerful platform for modern genomics by using static biological pores to report the translocation of canonical nucleic acids, enabling rapid, accessible nucleic acid analysis. However, extending this strategy to single-molecule proteomics has stalled against a fundamental biophysical bottleneck. Current efforts in nanopore proteomics...

Risk stratification for the rapid pain progression phenotype in knee osteoarthritis using interpretable multimodal machine learning: Development in the Osteoarthritis Initiative and external evaluation in the Prospective Cohort of Osteoarthritis from A Coruna

Objective. To develop an interpretable multimodal machine-learning model for risk stratification of the rapid pain progression phenotype in knee osteo...

Precision Management of Fludrocortisone-Related Hypertension Risk in Congenital Adrenal Hyperplasia: A Machine Learning Approach to Personalized Dosing

Congenital adrenal hyperplasia (CAH) is a rare inherited disorder requiring lifelong hormone replacement therapy. Excessive hormone replacement poses ...

Single-cell foundation models predict durable CAR T response despite imperfect cell annotation

CD19 targeted chimeric antigen receptor (CAR) T cell therapy achieves high initial response rates in B cell acute lymphoblastic leukemia (B ALL), yet ...

A Multimodal Multiomics Machine Learning (MMM) approach for biomarker discovery and acceleration of clinical trial readiness for childhood-onset neurological disorders

Background Childhood neurodegenerative disorders are usually rare, genetic, and life-limiting. Whilst targeted approaches present huge potential, sign...

GEM-GPT Enables Personalized Cell Type-Resolved Therapeutic Design for Systems Pharmacology

Generative artificial intelligence (AI) has emerged as a powerful framework for drug discovery, yet most current approaches follow one-drug-one-gene t...

Muon Reduces the Training Cost of Regulatory DNA Transformers

Gene-therapy design depends on identifying regulatory sequences that drive the right level, timing, and cell-type specificity of expression. Regulator...

Using Deep Learning to predict replication timing reveals baseline control of genomic DNA sequence

Human DNA replicates according to a precise schedule: certain regions are replicated early, while others replicate later in the cell cycle. The DNA se...

Activity and specificity trade-offs in adenine base editors

Adenine base editors (ABEs) are CRISPR effectors that introduce A-T to G-C transitions in the genome using a nucleotide deaminase fused to a Cas prote...

Current Injection Spiking Neural Network for Infrared and Visible Image Fusion

Infrared and visible image fusion (IVIF) integrates the complementary information of two modalities into a single image with richer scene content. Whi...

Self-supervision drives representational convergence in medical foundation models more than clinical supervision

Medical image encoders from different groups are increasingly treated as interchangeable, on the assumption that scale and clinical supervision concen...

Causal dictionary learning reveals and validates transcription-factor binding features in genomic language models

Genomic language models achieve strong performance across regulatory-genomics tasks, yet what these models internally represent remains opaque, and th...

Binary node clustering via contrastive learning for haplotype phasing in de novo genome assembly

Accurate haplotype phasing is essential for high-quality genome assembly, yet de novo phasing of complex genomes without parental data remains challen...

ConceptCF: Concept-based Counterfactuals for the Explainability of Time Series

This paper proposes ConceptCF, a method for counterfactual generation that operates on human-interpretable concepts. In high-stakes domains such as he...

Diagnostic Accuracy of MRI Radiomics for Predicting KRAS Mutation in Rectal Cancer: A Systematic Review and Meta-analysis

BackgroundKRAS mutation status is an important biomarker in rectal cancer, with implications for prognosis and treatment response. MRI-based radiomics...

scRepresenter: a workflow for computing, integrating and benchmarking cellular representations in single-cell transcriptomics

Motivation: Single-cell RNA sequencing (scRNA-seq) has become an attractive tool for studying complex diseases, in which transient cell states affecti...

Factorization and spatial encodings: a hypothesis about the foundations of the genomic code

The genomic mechanisms that efficiently encode the initial architecture and synaptic connectivity of neural circuits remain poorly understood. We hypo...

Diversity and evolution of the transcriptional regulatory networks of Pseudomonas strains revealed using machine learning

The genus Pseudomonas consists of diverse and ecologically significant species that form close associations with both plants and animals. This genus i...

GDTR: Layer-wise Settling Depth Reveals Biological Grammar in Genomic Foundation Models

Genomic foundation models capture sequence regularities, yet existing interpretability tools rarely ask where in the layer stack a biological grammar ...