Genetics

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

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Epistatic contributions to human traits via transcription factor mechanisms

Epistasis causes an individual’s genetic background to modulate a DNA variant’s effect on trait [1–6...

aiDIVA – Diagnostics of Rare Genetic Diseases Using Large Language Models

Genome sequencing (GS) enables the accurate identification of genetic variants in most genomic regio...

Deep learning-based precision phenotyping of spine curvature identifies novel genetic risk loci for scoliosis in the UK Biobank

Scoliosis is the most common developmental spinal deformity, but its genetic underpinnings remain on...

Clinical Validation of RlapsRisk BC in an international multi-cohorts setting

This study evaluated the prognostic performance of RlapsRisk BC, a multimodal deep learning tool des...

The HeartMagic prospective observational study protocol – characterizing subtypes of heart failure with preserved ejection fraction

Heart failure (HF) is a life-threatening syndrome with significant morbidity and mortality. While ev...

Genomic Classification of Acute Lymphoblastic Leukemia Using AI: Towards Personalized Medicine

Acute lymphoblastic leukemia is a highly heterogeneous hematologic malignancy that poses significant...

Enhancer-targeting CRISPR screens at coronary artery disease loci suggest shared mechanisms of disease risk

To systematically identify causal genetic mechanisms that confer risk for coronary artery disease (C...

Development of a machine learning model to predict short duration HCV treatment response

Standard durations of direct acting antivirals (DAAs; 8–12 weeks) can be a barrier to HCV treatment ...

Using deep learning to improve genetic studies of osteoporosis

To evaluate how recent advances in deep learning can improve the construction of quantitative phenot...

Artificial Intelligence in Early Detection of Autism Spectrum Disorder for Preschool ages: A Systematic Literature Review

Early detection of autism spectrum disorder (ASD) improves outcomes, yet clinical assessment is time...

Combining blood transcriptomic signatures improves the prediction of progression to tuberculosis among household contacts in Brazil

Tuberculosis remains a major health threat, infecting nearly a third of the world’s population. Of t...

ViraLite: An Ultracompact HIV Viral Load Self-Testing System with Internal Quality Control

The availability of effective antiretroviral therapy has made HIV manageable, provided patients have...

Early Prediction of Gestational Diabetes Using Integrated Cell-free DNA Features and Omics-derived Genetic Scores

Gestational diabetes mellitus (GDM) affects 15.6% of pregnancies globally, with Vietnam exhibiting o...

Novel Epistatic Interaction Between RBMS3 and CDKN2B-AS1 in Coronary Artery Disease Risk Identified by Machine Learning Tool VariantSpark

Genome-wide association studies (GWAS) of coronary artery disease (CAD), the leading cause of mortal...

Benchmarking non-additive genetic effects on polygenic prediction and machine learning-based approaches

Polygenic scores (PGSs) are widely used to translate genome-wide association study (GWAS) findings i...

Clinical trials in depression: Integrated collection across EU and US registries

Depression affects millions worldwide with both pharmacological and psychological therapies widely a...

KG2ML: Integrating Knowledge Graphs and Positive Unlabeled Learning for Identifying Disease-Associated Genes

Biomedical knowledge graphs (KGs), such as the Data Distillery Knowledge Graph (DDKG), capture known...

Machine learning to phenotype pain and predict response to pain interventions among young adults with irritable bowel syndrome

Irritable bowel syndrome (IBS) is a prevalent disorder whose most debilitating symptom is pain. The ...

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