AIMC Topic: Cell-Free Nucleic Acids

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

Genome research Jan 22, 2025
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...
Humans Neoplasms Cell-Free Nucleic Acids High-Throughput Nucleotide Sequencing Liquid Biopsy Artificial Intelligence Machine Learning Female
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An appropriate DNA input for bisulfite conversion reveals LINE-1 and Alu hypermethylation in tissues and circulating cell-free DNA from cancers.

PloS one Dec 30, 2024
The autonomous and active Long-Interspersed Element-1 (LINE-1, L1) and the non-autonomous Alu retrotransposon elements, contributing to 30% of the human genome, are the most abundant repeated sequences. With more than 90% of their sequences being met...
Humans Male Female Long Interspersed Nucleotide Elements Neoplasms Breast Neoplasms Cell-Free Nucleic Acids DNA Methylation Alu Elements Sulfites
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Plasma cell-free RNA signatures of inflammatory syndromes in children.

Proceedings of the National Academy of Sciences of the United States of America Sep 6, 2024
Inflammatory syndromes, including those caused by infection, are a major cause of hospital admissions among children and are often misdiagnosed because of a lack of advanced molecular diagnostic tools. In this study, we explored the utility of circul...
Diagnosis, Differential Bacterial Infections Virus Diseases Inflammation Cell-Free Nucleic Acids Mucocutaneous Lymph Node Syndrome Female Male Infant Machine Learning COVID-19 Child Biomarkers Adolescent Systemic Inflammatory Response Syndrome Child, Preschool Humans
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Detecting pulmonary malignancy against benign nodules using noninvasive cell-free DNA fragmentomics assay.

ESMO open Jul 31, 2024
BACKGROUND: Early screening using low-dose computed tomography (LDCT) can reduce mortality caused by non-small-cell lung cancer. However, ∼25% of the 'suspicious' pulmonary nodules identified by LDCT are later confirmed benign through resection surge...
Cell-Free Nucleic Acids Multiple Pulmonary Nodules Early Detection of Cancer Middle Aged Lung Neoplasms Carcinoma, Non-Small-Cell Lung Liquid Biopsy Humans Machine Learning Aged Male Tomography, X-Ray Computed Female
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Tissue of origin detection for cancer tumor using low-depth cfDNA samples through combination of tumor-specific methylation atlas and genome-wide methylation density in graph convolutional neural networks.

Journal of translational medicine Jul 3, 2024
BACKGROUND: Cell free DNA (cfDNA)-based assays hold great potential in detecting early cancer signals yet determining the tissue-of-origin (TOO) for cancer signals remains a challenging task. Here, we investigated the contribution of a methylation at...
Algorithms Neoplasms DNA Methylation Cell-Free Nucleic Acids Humans Neural Networks, Computer Genome, Human Organ Specificity
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Deep learning model integrating cfDNA methylation and fragment size profiles for lung cancer diagnosis.

Scientific reports Jun 26, 2024
Detecting aberrant cell-free DNA (cfDNA) methylation is a promising strategy for lung cancer diagnosis. In this study, our aim is to identify methylation markers to distinguish patients with lung cancer from healthy individuals. Additionally, we soug...
Cell-Free Nucleic Acids ROC Curve Lung Neoplasms DNA Methylation Male Middle Aged Deep Learning Aged Biomarkers, Tumor Humans Female
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Prediction of Transcription Factor Binding Sites on Cell-Free DNA Based on Deep Learning.

Journal of chemical information and modeling May 9, 2024
Transcription factors (TFs) are important regulatory elements for vital cellular activities, and the identification of transcription factor binding sites (TFBS) can help to explore gene regulatory mechanisms. Research studies have proved that cfDNA (...
Humans Deep Learning Transcription Factors Binding Sites Cell-Free Nucleic Acids DNA
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A Machine learning model for predicting sepsis based on an optimized assay for microbial cell-free DNA sequencing.

Clinica chimica acta; international journal of clinical chemistry May 4, 2024
OBJECTIVE: To integrate an enhanced molecular diagnostic technique to develop and validate a machine-learning model for diagnosing sepsis.
Humans Sepsis Sequence Analysis, DNA Cell-Free Nucleic Acids Aged Machine Learning Male Prospective Studies Middle Aged Female
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Machine learning-enhanced noninvasive prenatal testing of monogenic disorders.

Prenatal diagnosis Apr 30, 2024
OBJECTIVE: Single-nucleotide variants (SNVs) are of great significance in prenatal diagnosis as they are the leading cause of inherited single-gene disorders (SGDs). Identifying SNVs in a non-invasive prenatal screening (NIPS) scenario is particularl...
Bayes Theorem Genetic Diseases, Inborn Noninvasive Prenatal Testing Female Polymorphism, Single Nucleotide Humans Cell-Free Nucleic Acids Machine Learning Pregnancy
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The role of cell-free DNA biomarkers and patient data in the early prediction of preeclampsia: an artificial intelligence model.

American journal of obstetrics and gynecology Mar 2, 2024
BACKGROUND: Accurate individualized assessment of preeclampsia risk enables the identification of patients most likely to benefit from initiation of low-dose aspirin at 12 to 16 weeks of gestation when there is evidence for its effectiveness, and ena...
Female Gestational Age Neural Networks, Computer Adult Cell-Free Nucleic Acids Artificial Intelligence Logistic Models Predictive Value of Tests Humans Prospective Studies Pre-Eclampsia Biomarkers Pregnancy
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