Genetics

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

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Wiz regulates clustered protocadherin genes by restricting CTCF/cohesin loop extrusion in a genomic-distance biased manner.

Zinc finger proteins (ZFPs or ZNFs) constitute the largest family of transcription factors in mammals; however, their regulatory mechanism remains largely elusive. Here we propose COP (C2H2-ZFP occupancy predictor), a deep learning-based heuristic screening tool that integrates DNA sequence with protein primary and secondary features to assess ZFP genomic enrichments. Applying COP to the mouse clu...

Jul 16 2026 42461945

Structure and evolution-guided design of minimal RNA-guided nucleases.

The design of RNA-guided nucleases with properties not limited by evolution can expand programmable genome-editing capabilities. However, generating diverse multidomain proteins with robust enzymatic properties remains challenging. Here, we use a protein design strategy that couples a structure-guided inverse-folding model with evolution-informed residue constraints to generate active, divergent v...

Jul 16 2026 42462008
Integrating CRISPR/Cas Biosensors with Advanced Platforms: A Holistic Path Toward Preamplification-free, Multiplexed, and Continuous Molecular Monitoring.

The paradigm of molecular diagnostics has been transformed by the repurposing of CRISPR-Cas systems from being gene-editing tools to nucleic acid dete...

Jul 16 2026 42462085
Next-generation precision oncology in microsatellite stable colorectal cancer: integrated targeting beyond RAS and RAF.

The therapeutic landscape of colorectal cancer (CRC) has evolved with the identification of molecular subtypes, including mismatch repair-deficient/mi...

Jul 16 2026 42462280
Artificial intelligence-assisted detection and optical differentiation of colorectal lesions in Lynch syndrome surveillance (CADLY2): a multicentre, open-label, randomised controlled superiority trial.

BACKGROUND: Artificial intelligence (AI)-based computer-aided detection (CADe) systems improve adenoma detection in average-risk colorectal cancer scr...

Jul 16 2026 42462747
Comprehensive analysis of the association between perfluorooctanoic acid exposure and osteosarcoma progression.

Perfluorooctanoic acid (PFOA), a persistent environmental pollutant, represents a chronic environmental stressor, yet its role in osteosarcoma progres...

Jul 16 2026 42462996
AlphaGEM enables precise genome-scale metabolic modelling by integrating protein structure alignment with deep-learning-based dark metabolism mining.

Constructing high-quality genome-scale metabolic models (GEMs) for non-model organisms remains challenging. To address this, we developed AlphaGEM, a ...

Jul 16 2026 42463708
Calibration-aware genomic prediction of paratuberculosis serostatus in indigenous Turkish goats.

Paratuberculosis, caused by Mycobacterium avium subsp. paratuberculosis (MAP), is a chronic, incurable enteritis of ruminants in which late-onset clin...

Jul 16 2026 42463740
Reversing cancer cell behavior using AI-guided CRISPR and quantum nanobiology: a systems-based approach to epigenetic reprogramming.

Treatment effectiveness is hindered by the phenotypic plasticity of cancer and the genetic complexity of tumors. However, CRISPR-Cas-based medicines f...

Jul 16 2026 42463825
misoTar: a novel approach for predicting miRNA and isomiR targets.

Understanding microRNA/isomiR-mRNA interactions has long been a major challenge. Although many computational methods exist for predicting miRNA-mRNA i...

Jul 16 2026 42463882
Integrative single-cell and spatial transcriptomics combined with machine learning to discover complement-associated biomarkers in temporal lobe epilepsy with hippocampal sclerosis.

Temporal lobe epilepsy with hippocampal sclerosis (TLE-HS) poses significant challenges in therapeutic management. While studies have demonstrated sei...

Jul 16 2026 42458112
Screening of core targets for Di(2-ethylhexyl) Phthalate-related gastric cancer based on machine learning, molecular docking, and SHAP analysis.

PURPOSE: Given the existing uncertainties regarding the link between Di(2-ethylhexyl) phthalate (DEHP) exposure and gastric cancer (GC) progression, t...

Jul 16 2026 42461936
Causal association and shared mechanisms between Graves' disease and prostate cancer: insights from Mendelian randomization, machine learning, and comprehensive bioinformatics.

BACKGROUND: Observational studies link hyperthyroidism to increased prostate cancer (PCa) risk, but causality and mechanisms remain unclear. Graves' d...

Jul 15 2026 42454507
Functionally Guided Graph Learning for Robust Cross-Patient Cell-Type Annotation in Single-Cell RNA Sequencing.

Cross-patient cell-type annotation in single-cell RNA sequencing (scRNA-seq) remains challenging due to pronounced interpatient heterogeneity and dist...

Jul 15 2026 42455075
AI-driven multi-omics deciphering of extrachromosomal circular DNA rescues hidden targets in colorectal cancer.

BACKGROUND: Extrachromosomal circular DNA (eccDNA) is an emerging tumor biomarker notable for its tumor-specific amplification and contribution to gen...

Jul 15 2026 42449376
Quantitative Relationship Between White Matter Hyperintensity Volume and Fazekas Score on Brain MRI.

BACKGROUND: The Fazekas score is widely used to grade white matter hyperintensities (WMHs) in cerebral small vessel disease, yet the equivalent volume...

Jul 15 2026 42454405
Construction and validation of a phenotypic prediction model for bacterial gentamicin resistance using deep learning with gene sequences.

The emergence of bacterial resistance to antibiotics poses a significant threat to human health; thus, there is an urgent need for new strategies in u...

Jul 15 2026 42454932
Research progress on detection technologies for Mycoplasma pneumoniae.

Mycoplasma pneumoniae (M. pneumoniae) is a primary pathogen responsible for community-acquired pneumonia (CAP), particularly prevalent among children ...

Jul 15 2026 42455488
Popformer: Learning general signatures of positive selection with a self-supervised transformer.

Understanding natural selection can help shed light on the genetics underpinning adaptive evolution. The widespread availability of large-scale human ...

Jul 15 2026 42455870
Metrics Used for the Evaluation of Chatbots Providing Cancer Genetic Risk Assessment and Education: Systematic Review.

BACKGROUND: Chatbots have recently emerged as an alternative approach for delivering cancer risk assessment and genetic counseling. Understanding the ...

Jul 15 2026 42456155
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