AIMC Topic: High-Throughput Nucleotide Sequencing

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GAINSeq: glaucoma pre-symptomatic detection using machine learning models driven by next-generation sequencing data.

Scientific reports Jul 2, 2025
Congenital glaucoma, a complex and diverse condition, presents considerable difficulties in its identification and categorization. This research used Next Generation Sequencing (NGS) whole-exome data to create a categorization framework using machine...
Algorithms Genotype Decision Trees High-Throughput Nucleotide Sequencing Humans Glaucoma Machine Learning
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Next-Generation Sequencing-Based Testing Among Patients With Advanced or Metastatic Nonsquamous Non-Small Cell Lung Cancer in the United States: Predictive Modeling Using Machine Learning Methods.

JMIR cancer Jun 11, 2025
BACKGROUND: Next-generation sequencing (NGS) has become a cornerstone of treatment for lung cancer and is recommended in current treatment guidelines for patients with advanced or metastatic disease.
Humans Machine Learning Lung Neoplasms United States Carcinoma, Non-Small-Cell Lung Biomarkers, Tumor Female High-Throughput Nucleotide Sequencing Male Aged Middle Aged Adult
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Enhancing R-loop prediction with high-throughput sequencing data.

NAR genomics and bioinformatics Jun 11, 2025
R-loops are three-stranded RNA and DNA hybrid structures that often occur in the genome and play important roles in a variety of cellular processes from bacteria to mammals. Sequencing methods profiling R-loops genome-wide have revealed that they can...
High-Throughput Nucleotide Sequencing Chromatin R-Loop Structures Machine Learning Animals Mice Humans
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AI-Driven Biomarker Discovery and Personalized Allergy Treatment: Utilizing Machine Learning and NGS.

Current allergy and asthma reports Jun 3, 2025
PURPOSE OF REVIEW: This review explores the transformative potential of artificial intelligence (AI) and next-generation sequencing (NGS) in allergy diagnostics and treatment. It focuses on leveraging these technologies to enhance precision in biomar...
Biomarkers Humans Hypersensitivity Precision Medicine Artificial Intelligence High-Throughput Nucleotide Sequencing Machine Learning
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Molecular detection of hrHPV-induced high-grade squamous intraepithelial lesions of the cervix through a targeted RNA next generation sequencing assay.

Molecular medicine (Cambridge, Mass.) May 30, 2025
BACKGROUND: Cervical cancer screening programs are increasingly relying on sensitive molecular approaches as primary tests to detect high-risk human papillomaviruses (hrHPV), the causative agents of cervix cancer. Although hrHPV infection is a pre-re...
Humans Female RNA, Viral Papillomavirus Infections High-Throughput Nucleotide Sequencing Squamous Intraepithelial Lesions Adult Early Detection of Cancer Papillomaviridae Squamous Intraepithelial Lesions of the Cervix Uterine Cervical Neoplasms Neoplasm Grading Middle Aged
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A standardized framework for robust fragmentomic feature extraction from cell-free DNA sequencing data.

Genome biology May 23, 2025
Fragmentomics features of cell-free DNA represent promising non-invasive biomarkers for cancer diagnosis. A lack of systematic evaluation of biases in feature quantification hinders the adoption of such applications. We compare features derived from ...
Humans Machine Learning Software High-Throughput Nucleotide Sequencing Sequence Analysis, DNA Cell-Free Nucleic Acids Whole Genome Sequencing
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ConsensuSV-ONT - A modern method for accurate structural variant calling.

Scientific reports May 17, 2025
Improvements in sequencing technology make the development of new tools for detection of structural variance more and more common. However, since the tools available for the long-read Oxford Nanopore sequencing are limited, and the selection of the o...
Sequence Analysis, DNA High-Throughput Nucleotide Sequencing Nanopore Sequencing Software Algorithms Deep Learning Humans Neural Networks, Computer
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Standardizing a microbiome pipeline for body fluid identification from complex crime scene stains.

Applied and environmental microbiology Apr 30, 2025
Recent advances in next-generation sequencing have opened up new possibilities for applying the human microbiome in various fields, including forensics. Researchers have capitalized on the site-specific microbial communities found in different parts ...
Microbiota Body Fluids High-Throughput Nucleotide Sequencing Humans Machine Learning Female Male Bacteria Saliva
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Performance and hypothetical clinical impact of an mNGS-based machine learning model for antimicrobial susceptibility prediction of five ESKAPEE bacteria.

Microbiology spectrum Apr 17, 2025
UNLABELLED: Antimicrobial resistance is an escalating global health crisis, underscoring the urgent need for timely and targeted therapies to ensure effective clinical treatment. We developed a machine learning model based on metagenomic next-generat...
Acinetobacter baumannii Microbial Sensitivity Tests Humans Klebsiella pneumoniae Anti-Bacterial Agents Machine Learning Bacteria Pseudomonas aeruginosa Escherichia coli Female Adult Staphylococcus aureus High-Throughput Nucleotide Sequencing Aged Male Bacterial Infections Metagenomics Middle Aged
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Circular RNA discovery with emerging sequencing and deep learning technologies.

Nature genetics Apr 17, 2025
Circular RNA (circRNA) represents a type of RNA molecule characterized by a closed-loop structure that is distinct from linear RNA counterparts. Recent studies have revealed the emerging role of these circular transcripts in gene regulation and disea...
Single-Cell Analysis Sequence Analysis, RNA High-Throughput Nucleotide Sequencing RNA, Circular Algorithms Humans Animals Artificial Intelligence Deep Learning
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