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Genomics

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Genomic and algorithm-based predictive risk assessment models for benzene exposure.

Frontiers in public health
AIM: In this research, we leveraged bioinformatics and machine learning to pinpoint key risk genes associated with occupational benzene exposure and to construct genomic and algorithm-based predictive risk assessment models.

Inferring tumor purity using multi-omics data based on a uniform machine learning framework MoTP.

Briefings in bioinformatics
Existing algorithms for assessing tumor purity are limited to a single omics data, such as gene expression, somatic copy number variations, somatic mutations, and DNA methylation. Here we proposed the machine learning Multi-omics Tumor Purity predict...

Data stewardship and curation practices in AI-based genomics and automated microscopy image analysis for high-throughput screening studies: promoting robust and ethical AI applications.

Human genomics
BACKGROUND: Researchers have increasingly adopted AI and next-generation sequencing (NGS), revolutionizing genomics and high-throughput screening (HTS), and transforming our understanding of cellular processes and disease mechanisms. However, these a...

Biomarkers, omics and artificial intelligence for early detection of pancreatic cancer.

Seminars in cancer biology
Pancreatic ductal adenocarcinoma (PDAC) is frequently diagnosed in its late stages when treatment options are limited. Unlike other common cancers, there are no population-wide screening programmes for PDAC. Thus, early disease detection, although ur...

Assessing the performance of generative artificial intelligence in retrieving information against manually curated genetic and genomic data.

Database : the journal of biological databases and curation
Curated resources at centralized repositories provide high-value service to users by enhancing data veracity. Curation, however, comes with a cost, as it requires dedicated time and effort from personnel with deep domain knowledge. In this paper, we ...

Cross-modal alignment and contrastive learning for enhanced cancer survival prediction.

Computer methods and programs in biomedicine
BACKGROUND AND OBJECTIVE: Integrating multimodal data, such as pathology images and genomics, is crucial for understanding cancer heterogeneity, personalized treatment complexity, and enhancing survival prediction. However, most current prognostic me...

Advancing optical nanosensors with artificial intelligence: A powerful tool to identify disease-specific biomarkers in multi-omics profiling.

Talanta
Multi-omics profiling integrates genomic, epigenomic, transcriptomic, and proteomic data, essential for understanding complex health and disease pathways. This review highlights the transformative potential of combining optical nanosensors with artif...

AskBeacon-performing genomic data exchange and analytics with natural language.

Bioinformatics (Oxford, England)
MOTIVATION: Enabling clinicians and researchers to directly interact with global genomic data resources by removing technological barriers is vital for medical genomics. AskBeacon enables large language models (LLMs) to be applied to securely shared ...

An Attention-Based Deep Neural Network Model to Detect Cis-Regulatory Elements at the Single-Cell Level From Multi-Omics Data.

Genes to cells : devoted to molecular & cellular mechanisms
Cis-regulatory elements (cREs) play a crucial role in regulating gene expression and determining cell differentiation and state transitions. To capture the heterogeneous transitions of cell states associated with these processes, detecting cRE activi...

Deciphering genomic codes using advanced natural language processing techniques: a scoping review.

Journal of the American Medical Informatics Association : JAMIA
OBJECTIVES: The vast and complex nature of human genomic sequencing data presents challenges for effective analysis. This review aims to investigate the application of natural language processing (NLP) techniques, particularly large language models (...