AIMC Topic: High-Throughput Nucleotide Sequencing

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Trans-m5C: A transformer-based model for predicting 5-methylcytosine (m5C) sites.

Methods (San Diego, Calif.) Dec 30, 2024
5-Methylcytosine (m5C) plays a pivotal role in various RNA metabolic processes, including RNA localization, stability, and translation. Current high-throughput sequencing technologies for m5C site identification are resource-intensive in terms of cos...
Humans Neural Networks, Computer Animals RNA High-Throughput Nucleotide Sequencing Deep Learning Mice Computational Biology 5-Methylcytosine
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Optimizing sequence data analysis using convolution neural network for the prediction of CNV bait positions.

BMC bioinformatics Dec 24, 2024
BACKGROUND: Accurate prediction of copy number variations (CNVs) from targeted capture next-generation sequencing (NGS) data relies on effective normalization of read coverage profiles. The normalization process is particularly challenging due to hid...
High-Throughput Nucleotide Sequencing Exome Sequencing Humans Neural Networks, Computer Data Analysis Algorithms Sequence Analysis, DNA DNA Copy Number Variations
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The Role of ctDNA in the Management of Non-Small-Cell Lung Cancer in the AI and NGS Era.

International journal of molecular sciences Dec 20, 2024
Liquid biopsy (LB) involves the analysis of circulating tumour-derived DNA (ctDNA), providing a minimally invasive method for gathering both quantitative and qualitative information. Genomic analysis of ctDNA through next-generation sequencing (NGS) ...
High-Throughput Nucleotide Sequencing Liquid Biopsy Circulating Tumor DNA Humans Biomarkers, Tumor Artificial Intelligence Lung Neoplasms Prognosis Carcinoma, Non-Small-Cell Lung
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Comparative Analysis of Generative Pre-Trained Transformer Models in Oncogene-Driven Non-Small Cell Lung Cancer: Introducing the Generative Artificial Intelligence Performance Score.

JCO clinical cancer informatics Dec 11, 2024
PURPOSE: Precision oncology in non-small cell lung cancer (NSCLC) relies on biomarker testing for clinical decision making. Despite its importance, challenges like the lack of genomic oncology training, nonstandardized biomarker reporting, and a rapi...
Lung Neoplasms Carcinoma, Non-Small-Cell Lung High-Throughput Nucleotide Sequencing Oncogenes Artificial Intelligence Precision Medicine Biomarkers, Tumor Humans
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Deep learning using histological images for gene mutation prediction in lung cancer: a multicentre retrospective study.

The Lancet. Oncology Dec 6, 2024
BACKGROUND: Accurate detection of driver gene mutations is crucial for treatment planning and predicting prognosis for patients with lung cancer. Conventional genomic testing requires high-quality tissue samples and is time-consuming and resource-con...
Biomarkers, Tumor Male Middle Aged Retrospective Studies Female Aged Mutation High-Throughput Nucleotide Sequencing Deep Learning China Lung Neoplasms Humans Prognosis
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AlzGenPred - CatBoost-based gene classifier for predicting Alzheimer's disease using high-throughput sequencing data.

Scientific reports Dec 5, 2024
AD is a progressive neurodegenerative disorder characterized by memory loss. Due to the advancement in next-generation sequencing, an enormous amount of AD-associated genomics data is available. However, the information about the involvement of these...
Humans High-Throughput Nucleotide Sequencing Genomics Computational Biology Machine Learning Alzheimer Disease Software Algorithms
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Machine learning based on multiplatform tests assists in subtype classification of mature B-cell neoplasms.

British journal of haematology Dec 3, 2024
Mature B-cell neoplasms (MBNs) are clonal proliferative diseases encompassing over 40 subtypes. The WHO classification (morphology, immunology, cytogenetics and molecular biology) provides comprehensive diagnostic understandings. However, MBN subtypi...
High-Throughput Nucleotide Sequencing Immunohistochemistry Lymphoma, B-Cell Mutation Flow Cytometry Humans Bone Marrow Machine Learning Lymphoma, Mantle-Cell Retrospective Studies Neprilysin Leukemia, Hairy Cell Leukemia, Lymphocytic, Chronic, B-Cell Lymphoma, Follicular Waldenstrom Macroglobulinemia East Asian People CD5 Antigens
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Analysis of public perceptions on the use of artificial intelligence in genomic medicine.

Human genomics Nov 18, 2024
PURPOSE: Next generation sequencing has led to the creation of large pools of genomic data with analysis rather than data generation now the limiting factor. Artificial intelligence (AI) may be required to optimize the benefits of these data, but lit...
Focus Groups Male Middle Aged Australia Female Humans Genomics High-Throughput Nucleotide Sequencing Aged Artificial Intelligence Public Opinion Adult
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Deep learning enables the use of ultra-high-density array in DNBSEQ.

Scientific reports Nov 13, 2024
DNBSEQ employs a patterned array to facilitate massively parallel sequencing of DNA nanoballs (DNBs), leading to a considerable boost in throughput. By employing the ultra-high-density (UHD) array with an increased density of DNB binding sites, the t...
Sequence Analysis, DNA DNA High-Throughput Nucleotide Sequencing Deep Learning Image Processing, Computer-Assisted
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Interpretation knowledge extraction for genetic testing via question-answer model.

BMC genomics Nov 9, 2024
BACKGROUND: Sequencing-based genetic testing is widely used in biomedical research, including pathogenic microorganism detection with metagenomic next-generation sequencing (mNGS). The application of sequencing results to clinical diagnosis and treat...
Knowledge Bases Humans High-Throughput Nucleotide Sequencing Computational Biology Metagenomics Genetic Testing
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