Genetics

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

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Showing 8149-8169 of 11,255 articles
A Machine Learning Framework for Melting Curve Analysis: Sequential Binary Encoding and Dual-Model Error Mitigation

As a cornerstone technique in molecular diagnostics, melting curve analysis (MCA) enables cost-effec...

Generalizable AI predicts immunotherapy outcomes across cancers and treatments

Immune checkpoint inhibitors have become standard care across many cancers, but most patients do not...

REECAP: Contrastive learning of retinal aging reveals genetic loci linking morphology to eye disease

Deep learning foundation models excel at disease prediction from medical images, yet their potential...

Deep-learning-derived glaucoma-related endophenotypes enable novel genome-wide genetic and functional discovery

The genetic architecture of primary open-angle glaucoma (POAG), a leading cause of irreversible blin...

Intraoperative classification of glioblastoma through near real-time stimulated Raman scattering microscopy

Glioblastoma is a highly malignant brain tumor in which maximal safe resection is associated with im...

Predicting Methylation-Based Replication Timing from Whole Slide Images

Replication timing is a costly but powerful tool for characterizing cellular mechanisms that underli...

IHGAMP: Pan-cancer HRD prediction from routine H&E whole-slide images using foundation models

Homologous recombination deficiency (HRD) confers sensitivity to poly (ADP-ribose) polymerase (PARP)...

LLM-Based Classification of Case Report Abstracts: A Pilot Study on Interactions between Radiotherapy and Systemic Therapies

The growing volume of biomedical literature, especially in oncology, necessitates automated tools fo...

Relationship of the Microbiome with Neurodegenerative Diseases: Development of AI Tools to Detect Alzheimer’s

This study aimed to develop an artificial intelligence (AI) algorithm capable of distinguishing Alzh...

Beyond Annotation: Leveraging Raw RNA-seq Reads via Foundation Models for Multi-Cancer Early Detection

Early cancer detection substantially improves patient survival, yet conventional screening methods a...

Transcriptome profiling to identify blood biomarkers for peritoneal endometriosis

Peritoneal endometriosis (PE) remains challenging to diagnose, as it cannot be detected using standa...

ML-Guided GWAS Reveals Genetic Architectures for MASLD for Overweight and Lean Individuals in the All of Us Cohort

Metabolic dysfunction-associated steatotic liver disease (MASLD) arises from excessive hepatic fat a...

Machine Learning and Micro Capture-C resolve GWAS associations revealing endothelial stress pathways in Coronary Artery Disease

Resolving the gene targets of non-coding genetic variation is the major bottleneck in translating ge...

Heterogeneous epigenetic variation converges on splicing dysregulation in opioid addiction

Disease heterogeneity presents a major challenge for genetic and epigenetic dissection of complex tr...

Conversational Artificial Intelligence-Based Integration of Clinical and Genomic Data Identifies MAPK Alterations in Colorectal Cancer

Colorectal cancer (CRC) exhibits marked heterogeneity across age, ancestry, and treatment context, u...

GENPHIRE: Enhancing Disease Risk Prediction Using Large Language Model

Estimating an individual’s liability to a disease is a fundamental problem in genome research. By ex...

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