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Cell-Free Nucleic Acids

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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
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...

Peak analysis of cell-free RNA finds recurrently protected narrow regions with clinical potential.

Genome biology
BACKGROUND: Cell-free RNAs (cfRNAs) can be detected in biofluids and have emerged as valuable disease biomarkers. Accurate identification of the fragmented cfRNA signals, especially those originating from pathological cells, is crucial for understand...

Detecting pulmonary malignancy against benign nodules using noninvasive cell-free DNA fragmentomics assay.

ESMO open
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...

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
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...

Plasma cell-free RNA signatures of inflammatory syndromes in children.

Proceedings of the National Academy of Sciences of the United States of America
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...

Noninvasive fetal genotyping using deep neural networks.

Briefings in bioinformatics
Circulating cell-free DNA (cfDNA) is a powerful diagnostics tool that is widely studied in the context of liquid biopsy in oncology and other fields. In obstetrics, maternal plasma cfDNA have already proven its utility, enabling noninvasive prenatal ...

Machine Learning-Based Detection of Bladder Cancer by Urine cfDNA Fragmentation Hotspots that Capture Cancer-Associated Molecular Features.

Clinical chemistry
BACKGROUND: cfDNA fragmentomics-based liquid biopsy is a potential option for noninvasive bladder cancer (BLCA) detection that remains an unmet clinical need.

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...

Exploring the potential of cell-free RNA and Pyramid Scene Parsing Network for early preeclampsia screening.

BMC pregnancy and childbirth
BACKGROUND: Circulating cell-free RNA (cfRNA) is gaining recognition as an effective biomarker for the early detection of preeclampsia (PE). However, the current methods for selecting disease-specific biomarkers are often inefficient and typically on...

Transformer-based deep learning for accurate detection of multiple base modifications using single molecule real-time sequencing.

Communications biology
We had previously reported a convolutional neural network (CNN) based approach, called the holistic kinetic model (HK model 1), for detecting 5-methylcytosine (5mC) by single molecule real-time sequencing (Pacific Biosciences). In this study, we cons...