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A multiomics dataset of paired CT image and plasma cell-free DNA end motif for patients with pulmonary nodules

Sci Data. 2025 Apr 1;12(1):545. doi: 10.1038/s41597-025-04912-1.

ABSTRACT

Diagnosing lung cancer at a curable stage offers the opportunity for a favorable prognosis. The emerging epigenomics analysis on plasma cell-free DNA (cfDNA), including 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC) modifications, has acted as a promising approach facilitating the identification of lung cancer. And, integrating 5mC biomarker with chest computed tomography (CT) image features could optimize the diagnosis of lung cancer, exceeding the performance of models built on single feature. However, the clinical applicability of integrated markers might be limited by the potential risk of overfitting due to small sample size. Hence, we prospectively collected peripheral blood sample and the paired chest CT images of 2032 patients with indeterminate pulmonary nodules across 5 centers, and constructed a large-scale, multi-institutional, multiomics database that encompass CT imaging data and plasma cfDNA fragmentomic in 5mC-, 5hmC-enriched regions. To our best knowledge, this dataset is the first radio-epigenomic dataset with the largest sample size, and provides multi-dimensional insights for early diagnosis of lung cancer, facilitating the individuated management for lung cancer.

PMID:40169596 | PMC:PMC11961589 | DOI:10.1038/s41597-025-04912-1

Investigation of the Molecular Mechanism of Asthma in Meishan Pigs Using Multi-Omics Analysis

Animals (Basel). 2025 Jan 13;15(2):200. doi: 10.3390/ani15020200.

ABSTRACT

Asthma has been extensively studied in humans and animals, but the molecular mechanisms underlying asthma in Meishan pigs, a breed with distinct genetic and physiological characteristics, remain elusive. Understanding these mechanisms could provide insights into veterinary medicine and human asthma research. We investigated asthma pathogenesis in Meishan pigs through transcriptomic and metabolomic analyses of blood samples taken during autumn and winter. Asthma in Meishan pigs is related to inflammation, mitochondrial oxidative phosphorylation, and tricarboxylic acid (TCA) cycle disorders. Related genes include CXCL10, CCL8, CCL22, CCL21, OLR1, and ACKR1, while metabolites include succinic acid, riboflavin-5-phosphate, and fumaric acid. Transcriptomic sequencing was performed on panting and normal Meishan pigs, and differentially expressed genes underwent functional enrichment screening. Metabolomic analysis revealed differential metabolites and pathways between groups. Combined analyses indicated that lung inflammation is influenced by genetic, allergenic, and environmental factors disrupting oxidative phosphorylation in lung mitochondria, affecting the TCA cycle. Mitochondrial reactive oxygen species, glutathione S-transferases, arginase 1 and RORC in immune regulation, the Notch pathway, YPEL4 in cell proliferation, and MARCKS in airway mucus secretion play roles in asthma pathogenesis. This study highlights that many cytokines and signaling pathways contribute to asthma. Further studies are needed to elucidate their complex interactions.

PMID:39858200 | PMC:PMC11759154 | DOI:10.3390/ani15020200

Deep whole-genome analysis of 494 hepatocellular carcinomas

Nature, Published online: 14 February 2024; doi:10.1038/s41586-024-07054-3

The Chinese Liver Cancer Atlas project depicts a panoramic genomic landscape of hepatocellular carcinoma, covering candidate coding and non-coding drivers, mutational signatures, extrachromosomal circular DNA, subclonal catastrophic events and detailed evolutionary history.

Novel DNA methylation biomarkers in stool and blood for early detection of colorectal cancer and precancerous lesions

Early detection and prevention of precancerous lesions can significantly reduce the morbidity and mortality of colorectal cancer (CRC). Here, we developed new candidate CpG site biomarkers for CRC and evaluate...
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