Genetics

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

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Parkinson's Disease motor and non-motor progression models emerge from pathway-level transcriptomics

Background Prognosis and therapeutic management in Parkinson's disease is a challenging task by its ...

Quantification of the effects of single nucleotide variants in NKX2.1 transcription factor binding sites

Transcription factors recognise and bind specific DNA sequence patterns in promoters and enhancers t...

Uncertainty-aware synthetic lethality prediction with pretrained foundation models

Synthetic lethality (SL) offers a promising paradigm for targeted cancer therapy, yet experimental i...

Deep genomic models of allele-specific measurements

Allele-specific quantification of sequencing data, such as gene expression, allows for a causal inve...

Identifying severe COVID-19 risk variants modulating enhancer reporter activity in lung cells

Common genetic variants contribute to risk for complex human diseases. However, despite thousands of...

A Fast and Practical Column Generation Approach for Identifying Carcinogenic Multi-Hit Gene Combinations

Cancer is often driven by specific combinations of an estimated two to nine gene mutations, known as...

Longitudinal modality prediction learns gene regulatory patterns: insights from a single-cell competition

Simultaneous measurement of chromatin, transcriptomic, and proteomic features in single cells opens ...

Deep learning framework ChIANet predicts protein-mediated chromatin architecture across functional contexts

The spatial organization of the genome is dynamically shaped by chromatin-binding proteins, yet how ...

RNA foundation models enable generalizable endometriosis disease classification and stable gene-level interpretation

Endometriosis is a chronic inflammatory condition with significant diagnostic delays impacting one i...

ARCH3D: A foundation model for global genome architecture

Biological foundation models are transforming scientific discovery by creating information-rich repr...

Extending Sequence Length is Not All You Need: Effective Integration of Multimodal Signals for Gene Expression Prediction

Gene expression prediction, which predicts mRNA expression levels from DNA sequences, presents signi...

Dream-SLAM: Dreaming the Unseen for Active SLAM in Dynamic Environments

In addition to the core tasks of simultaneous localization and mapping (SLAM), active SLAM additiona...

Morphological set enrichment enables interpretable prognostication and molecular profiling of meningiomas

Meningiomas are the most common primary brain tumors and, despite their benign reputation, often beh...

OligoGraph: A novel geometric graph-based approach for siRNA efficacy prediction

RNA interference (RNAi) is a biological process in which a small interfering RNA (siRNA) prevents th...

BOTANIC-0: a series of foundation models for plant genomic data

Genomic language models (gLMs) have emerged as a powerful paradigm for learning regulatory biology d...

EnhancerDetector: Enhancer Discovery from Human to Fly via Interpretable Deep Learning

Deciphering how enhancers encode regulatory information in DNA remains a central genomics challenge,...

Genomic Evolution of SARS-CoV-2 Delta Variants Pre- and Post-Omicron Emergence using Alignment-free Machine Learning models

The SARS-CoV-2 Delta variant (B.1.617.2), initially classified as a variant of concern due to its en...

Inference of cancer driver mutations from tumor microenvironmentcomposition: a pan-cancer study with cross-platform external validation

Cancer driver mutations shape the tumor microenvironment (TME), yet whether TME composition alone ca...

An snRNA-seq aging clock for the fruit fly head sheds light on sex-biased aging

Although multiple high-performing epigenetic aging clocks exist, few are based directly on gene expr...

SHAP-Guided CpG Selection with Ensemble Learning for Epigenetic Age Prediction

Abstract Epigenetic biomarkers offer critical insight into biological aging and disease risk, yet mo...

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