AIMC Topic: High-Throughput Nucleotide Sequencing

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An extensive review on infectious disease diagnosis using machine learning techniques and next generation sequencing: State-of-the-art and perspectives.

Computers in biology and medicine
UNLABELLED: Infectious diseases, including tuberculosis (TB), HIV/AIDS, and emerging pathogens like COVID-19 pose severe global health challenges due to their rapid spread and significant morbidity and mortality rates. Next-generation sequencing (NGS...

EVlncRNA-net: A dual-channel deep learning approach for accurate prediction of experimentally validated lncRNAs.

International journal of biological macromolecules
Long non-coding RNAs (lncRNAs) play key roles in numerous biological processes and are associated with various human diseases. High-throughput RNA sequencing (HTlncRNAs) has identified tens of thousands of lncRNAs across species, but only a small fra...

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...

A Perspective on Artificial Intelligence for Molecular Pathologists.

The Journal of molecular diagnostics : JMD
The widespread adoption of next-generation sequencing technology in molecular pathology has enabled us to interrogate the genome as never before. The huge quantities of data generated by sequencing, the enormous complexity of human and microbial gene...

Next-generation sequencing based deep learning model for prediction of HER2 status and response to HER2-targeted neoadjuvant chemotherapy.

Journal of cancer research and clinical oncology
INTRODUCTION: For patients with breast cancer, the amplification of Human Epidermal Growth Factor 2 (HER2) is closely related to their prognosis and treatment decisions. This study aimed to further improve the accuracy and efficiency of HER2 amplific...

An Information Fusion System-Driven Deep Neural Networks With Application to Cancer Mortality Risk Estimate.

IEEE transactions on neural networks and learning systems
Next-generation sequencing (NGS) genomic data offer valuable high-throughput genomic information for computational applications in medicine. Using genomic data to identify disease-associated genes to estimate cancer mortality risk remains challenging...

Spatially resolved transcriptomics and graph-based deep learning improve accuracy of routine CNS tumor diagnostics.

Nature cancer
The diagnostic landscape of brain tumors integrates comprehensive molecular markers alongside traditional histopathological evaluation. DNA methylation and next-generation sequencing (NGS) have become a cornerstone in central nervous system (CNS) tum...

Artificial intelligence and machine learning in cell-free-DNA-based diagnostics.

Genome research
The discovery of circulating fetal and tumor cell-free DNA (cfDNA) molecules in plasma has opened up tremendous opportunities in noninvasive diagnostics such as the detection of fetal chromosomal aneuploidies and cancers and in posttransplantation mo...

A deep multiple instance learning framework improves microsatellite instability detection from tumor next generation sequencing.

Nature communications
Microsatellite instability (MSI) is a critical phenotype of cancer genomes and an FDA-recognized biomarker that can guide treatment with immune checkpoint inhibitors. Previous work has demonstrated that next-generation sequencing data can be used to ...

High-Risk Sequence Prediction Model in DNA Storage: The LQSF Method.

IEEE transactions on nanobioscience
Traditional DNA storage technologies rely on passive filtering methods for error correction during synthesis and sequencing, which result in redundancy and inadequate error correction. Addressing this, the Low Quality Sequence Filter (LQSF) was intro...