AIMC Topic: Cell-Free Nucleic Acids

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A standardized framework for robust fragmentomic feature extraction from cell-free DNA sequencing data.

Genome biology
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 ...

Development and Validation of a Cell-Free DNA Fragmentomics-Based Model for Early Detection of Pancreatic Cancer.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology
PURPOSE: Pancreatic ductal adenocarcinoma (PDAC), known for its high fatality rate, is often diagnosed in its advanced stages where surgical options are not viable. This highlights the critical need for innovative and effective early detection techni...

Microbiome and fragmentation pattern of blood cell-free DNA and fecal metagenome enhance colorectal cancer micro-dysbiosis and diagnosis analysis: a proof-of-concept study.

mSystems
Colorectal cancer (CRC) is the third most common cancer, and it can be prevented by performing early screening. As a hallmark of cancer, the human microbiome plays important roles in the occurrence and development of CRC. Recently, the blood microbio...

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...

Cell-free DNA in ex-vivo lung perfusate is associated with low-quality lungs and lung transplant outcome.

The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation
BACKGROUND: Cell-free DNA (cfDNA) in ex-vivo lung perfusion (EVLP) perfusate has been shown to potentially reflect lung injury; however, the relationship between cfDNA concentration with clinical EVLP lung outcomes has not been elucidated.

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...

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...

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...