Genetics

Latest AI and machine learning research in genetics for healthcare professionals.

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Showing 7781-7800 of 14,220 articles

Cooperative Modular Representation Learning for Lung Adenocarcinoma Survival Prediction from Transcriptomic and Clinical Data

Accurate prognosis in lung adenocarcinoma (LUAD) requires integration of high-dimensional transcriptomic profiles with compact but clinically stable patient covariates. Naive fusion strategies allow the high-variance RNA-seq modality to dominate learned representations, suppressing clinical signal. We present Cooperative Modular Representation Learning (CMRL), an uncertainty-gated multimodal frame...

Plant Bioengineering Atlas: A Knowledge Graph of Genes, DNA Constructs, and Plant Traits.

Plant bioengineering has generated tens of thousands of genotype-to-phenotype relationships, but this knowledge remains fragmented across narrative literature and difficult to use computationally. Inconsistent descriptions of DNA constructs, host species, and traits, including variable species names, omitted regulatory elements, and inconsistent gene symbols, impede data reuse, comparative analysi...

A mechanism-annotated benchmark reveals limited fidelity to drug-response signatures in single-cell perturbation models

Single-cell drug perturbation models are increasingly used to predict how compounds remodel cellular states, but they are still largely assessed by ex...

MorphoCLIP: Text-Supervised Contrastive Learning for Perturbation Matching in Cell Painting Images

Cell Painting microscopy captures how cells change after a chemical or genetic perturbation. Connecting these images to the perturbations that produce...

Aug 24 2026 2608.22690v1
RIBOSPAN: A Long-Context RNA Foundation Model for Versatile RNA Modeling

Full-length RNAs, particularly messenger RNAs, often exceed the context lengths used to pretrain existing RNA foundation models, limiting complete-tra...

Aug 24 2026 2608.22849v1
Classifying CRISPR-Cas9 Off-Target Cleavage Sites from GUIDE-seq Data: A Class-Imbalanced Machine Learning Benchmark

Off-target cleavage is a central safety concern for CRISPR-Cas9 genome editing, particularly in therapeutic applications where unintended double-stran...

Progressive Loosening of a Dual Autoinhibitory Interface Activates PP2A-B56δ

Protein phosphatase 2A containing the B56{delta} regulatory subunit (PP2A-B56{delta}) is a critical signaling enzyme whose dysregulation is associated...

Bayesian Network Structure Learning: The NewCalibrated Minimum Uncertainty Criterion andDiscriminative Power Evaluation Framework

Bayesian network (BN) structure learning (BNSL) from heterogeneous data is a classical problem in probabilistic machine learning and knowledge discove...

LHMCF-Net: A Learned Hyperbolic Mean Curvature Flow Network for Medical Images Segmentation

Motivated by the classical Chan-Vese model and the ability of deep priors to capture complex spatial structures, we develop a segmentation model that ...

Aug 21 2026 2608.20942v1
RegFM: an interpretable context-aware foundation model for human transcriptional regulation

Transcriptional regulation is governed by interactions between cis-regulatory elements (CREs) and trans-acting regulators in a context-specific manner...

The urinary-metabolite-based lung cancer index (uLCI): an interpretable machine-learning risk model for early-stage disease

BackgroundFive-year survival from lung cancer exceeds 60% at stage I-II but falls below 10% once metastasis occurs. Low-dose CT (LDCT) screening reduc...

Distributed Genetic Effects on Human Brain Structure Emerge Across Multiple Spatial Scales

Genome-wide association studies (GWAS) have identified hundreds of common genetic variants associated with regional brain volumes, enabling the constr...

Single-Molecule Proteomics via a Dynamic Translocase and Physics-Informed Machine Learning

Single-molecule protein sequencing promises to democratize clinical proteomics, but platforms retrofitting static DNA-sequencing nanopores face a fund...

Genomic subtypes inferred from clinical sequencing provide significant prognostic stratification in metastatic breast cancer

PurposeThe 11 Integrative Cluster (IntClust) genomic subtypes of breast cancer have both prognostic and predictive value but require integrated DNA co...

Dynamics-aware geometric learning predicts disease-associated molecular perturbations

Missense mutations and post-translational modifications (PTMs) are major molecular perturbations that reshape protein function but are traditionally s...

Physics-Informed Modeling of Biological Aging through DNA Methylation Entropy

Epigenetic clocks based on DNA methylation patterns are among the most accurate molecular correlates of chronological age, yet widely used clocks are ...

Sparse Autoencoders Reveal Structural and Family-level Features in BiRNA-BERT

Motivation: RNA language models learn representations that support structure and function prediction, but which biological concepts their hidden state...

A Semantic + Neuronal Approach to Predict Pathogenic Variants in DNA Sequences

In this work, we present a machine learning model for identifying pathogenic DNA variants. The model was learned from the analysis of normal and patho...

bulk2scDiff: A Pseudobulk-Conditioned Diffusion Model for Bulk-to-Single-Cell RNASeq Generation

Bulk RNA sequencing remains the predominant profiling strategy for large clinical cohorts, but it aggregates transcriptional signals across cell popul...

Microbial bioprospecting for benzoxazolinate-like molecules: unleashing the potential of genome mining

The benzoxazolinate moiety is a key functional group found in a few natural products (NPs), exhibiting diverse bioactivities, including antitumor, ant...

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