Latest AI and machine learning research in genetics for healthcare professionals.
RNA regulation governs gene expression through sequence-encoded mechanisms such as RNA structure formation, protein binding, chemical modification, and RNA-RNA targeting, with regulatory rules spanning both nucleotide-scale motifs and longer-range context. RNA foundation models seek to learn transferable representations from large RNA corpora, but most existing approaches rely on masked language m...
Predicting treatment response remains challenging in oncology, particularly given the growing diversity of therapeutic options. Despite efforts using gene expression signatures, or integrative multi-omics frameworks, robust and interpretable biomarkers remain limited. We present SubNetDL, a deep learning framework that integrates subclonal mutation profiles and protein-protein interaction networks...
Facioscapulohumeral muscular dystrophy (FSHD) is caused by epigenetic dysregulation of the disease locus, leading to pathogenic misexpression of DUX4 ...
Chromatin states, which are defined by specific combinations of histone post-translational modifications, are fundamental to gene regulation and cellu...
Generative models are increasingly used to augment medical imaging datasets for fairer AI. Yet a key assumption often goes unexamined: that generators...
We present HistoAtlas, a pan-cancer computational atlas that extracts 38 interpretable histomic features from 6,745 diagnostic H&E slides across 21 TC...
Predicting genetic perturbation responses at a single-cell level is central to building models for cell state and disease. However, existing approache...
Breast cancer remains a leading cause of cancer-related mortality worldwide. Longitudinal mammography risk prediction models improve multi-year breast...
Accurate identification of protein-nucleotide binding sites is fundamental to deciphering molecular mechanisms and accelerating drug discovery. Howeve...
Scanning Probe Microscopy or SPM offers nanoscale resolution but is frequently marred by structured artefacts such as line scan dropout, gain induced ...
We present ScienceClaw + Infinite, a framework for autonomous scientific investigation in which independent agents conduct research without central co...
Variational Autoencoder (VAE) encoders play a critical role in modern generative models, yet their computational cost often motivates the use of knowl...
The COVID-19 pandemic exposed critical limitations in diagnostic workflows: RT-PCR tests suffer from slow turnaround times and high false-negative rat...
While Vision-Language Models (VLMs) have achieved remarkable performance across diverse downstream tasks, recent studies have shown that they can inhe...
Transcriptional control arises from the specific recognition of promoter DNA by transcription factors (TFs), forming the basis of cellular information...
With the advent of complete genome assemblies, genome annotation has become essential for the functional interpretation of genomic data. Long-read RNA...
Recent advances in cell segmentation successfully produce models that generalize across various cell-lines and imaging types. However, these methods s...
Targets supported by human genetic associations are more than twice as likely to progress from clinical development to approval. Genome-wide associati...
Accurate, consistent and comprehensive metadata are essential for the reuse of functional genomics data deposited in repositories such as the Gene Exp...
Identifying predictive biomarkers of immunotherapeutic response in melanoma remains an outstanding challenge. Existing transcriptomic and proteomic pr...