1.Preliminary exploration of multi-omics data fusion methods for high-dimensional small-sample datasets in traditional Chinese medicine.
Nian WANG ; Cheng-Cheng YU ; Hu YANG ; Zhong WANG ; Jun LIU
China Journal of Chinese Materia Medica 2025;50(1):278-284
With the advancement in big data and artificial intelligence technologies, the extensive application of omics technologies in traditional Chinese medicine(TCM) research has generated large experimental datasets, enabling the exploration of cross-scale correlations among massive data and thereby resulting in the shift toward a data-intensive research paradigm. The emerging approach of multi-omics data fusion analysis, emphasizing technical and computational tools, presents a potential breakthrough in this field. The holistic perspective of TCM aligns with the concept of multi-omics data fusion, yet the data types encountered exhibit high dimensionality with small sample sizes, necessitating data processing techniques such as dimensionality reduction. The current challenge lies in selecting suitable analytical methods for these data to enhance the systematic understanding of physiological functions and disease diagnosis/treatment processes. This paper explores the theories and frameworks of multi-omics data fusion, analyzes methods for fusing high-dimensional, small-sample multi-omics data in TCM, and aims to provide insights for advancing TCM research.
Medicine, Chinese Traditional/methods*
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Humans
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Computational Biology/methods*
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Genomics/methods*
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Sample Size
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Artificial Intelligence
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Multiomics
2.Research progress on multi-omics biomarkers in Sjogren's syndrome.
Xueqin ZHOU ; Huan LI ; Zhina ZHAO ; Qin LI ; Bingsen WANG ; Songwei LI
Chinese Journal of Cellular and Molecular Immunology 2025;41(10):921-928
Sjogren's syndrome (SS) is a common autoimmune disorder that primarily targets exocrine glands, leading to hallmark manifestations of xerostomia and xerophthalmia, with potential progression to multisystem involvement. The rapid advances in omics technologies-including metabolomics, proteomics, and transcriptomics-have yielded substantial insights into SS pathophysiology. This review consolidates current evidence on omics-derived biomarkers in SS. Studies consistently implicate aberrant glucose metabolism, neutrophil-derived enzyme activity, mitochondrial bioenergetic impairment, ferroptosis, and apoptotic pathways as central to SS development. These findings refine our understanding of disease mechanisms and the heterogeneity of therapeutic responses. Hydroxyproline has emerged as a candidate marker for distinguishing SS from IgG4-related disease, whereas distinct cytokine and chemokine signatures may enable earlier diagnosis. Genomic analyses demonstrate a robust association between expression of the rs11797 locus and SS-related lymphomagenesis, and several genes controlling DNA methylation represent promising therapeutic targets. Collectively, these findings lay the groundwork for personalized risk stratification and intervention in SS. The review concludes by summarizing existing progress and outlining priorities for future omics-based investigations.
Humans
;
Sjogren's Syndrome/diagnosis*
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Biomarkers/analysis*
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Metabolomics/methods*
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Proteomics/methods*
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Genomics
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Multiomics
3.Data-driven multi-omics analyses and modelling for bioprocesses.
Yan ZHU ; Zhidan ZHANG ; Peibin QIN ; Jie SHEN ; Jibin SUN
Chinese Journal of Biotechnology 2025;41(3):1152-1178
Biomanufacturing has emerged as a crucial driving force for efficient material conversion through engineered cells or cell-free systems. However, the intrinsic spatiotemporal heterogeneity, complexity, and dynamic characteristics of these processes pose significant challenges to systematic understanding, optimization, and regulation. This review summarizes essential methodologies for multi-omics data acquisition and analyses for bioprocesses and outlines modelling approaches based on multi-omics data. Furthermore, we explore practical applications of multi-omics and modelling in fine-tuning process parameters, improving fermentation control, elucidating stress response mechanisms, optimizing nutrient supplementation, and enabling real-time monitoring and adaptive adjustment. The substantial potential offered by integrating multi-omics with computational modelling for precision bioprocessing is also discussed. Finally, we identify current challenges in bioprocess optimization and propose the possible solutions, the implementation of which will significantly deepen understanding and enhance control of complex bioprocesses, ultimately driving the rapid advancement of biomanufacturing.
Fermentation
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Genomics/methods*
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Biotechnology/methods*
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Proteomics/methods*
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Models, Biological
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Metabolomics/methods*
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Bioreactors
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Multiomics
4.Multiomics and Multidimensional Testing for Efficacy Monitoring of Patients with Lymphoma.
Xin-Hua WANG ; Yan-Xin YANG ; Ying-Jun WANG ; Bao-Hong YUE ; Ming-Zhi ZHANG
Journal of Experimental Hematology 2023;31(3):746-752
OBJECTIVE:
To explore the role of a new blood-based, multiomics and multidimensional method for evaluating the efficacy of patients with lymphoma.
METHODS:
10 ml peripheral blood was extracted from each patient, and the genomic copy number aberrations (CNA) and fragment size (FS) were evaluated by low-depth whole genome sequencing of cfDNA, and the level of a group of plasma tumor marker (PTM) were detected at the same time. The cancer efficacy score (CES) was obtained by standardized transformation of the value of above three numerical indexes, and the changes of CES before and after treatment were compared to evaluate the patient's response to the treatment regimen.
RESULTS:
A total of 35 patients' baseline data were collected, of which 23 cases (65.7%) had elevated CES values. 18 patients underwent the first time test. The results showed that the CES value of 9 patients with positive baseline CES decreased significantly at the first test, and the efficacy evaluation was PR, which was highly consistent with the imaging evaluation results of the same period. At the same time, the CNA variation spectrum of all patients were evaluated and it was found that 23 patients had partial amplification or deletion of chromosome fragments. The most common amplification site was 8q24.21, which contains important oncogenes such as MYC. The most common deletion sites were 1p36.32, 4q21.23, 6q21, 6q27, 14q32.33, and tumor suppressor-related genes such as PRDM1, ATG5, AIM1, FOXO3 and HACE1 were expressed in the above regions, so these deletions may be related to the occurrence and development of lymphoma.
CONCLUSION
With the advantages of more convenience, sensitivity and non-invasive, this multiomics and multidimensional efficacy detection method can evaluate the tumor load of patients with lymphoma at the molecular level, and make more accurate efficacy evaluation, which is expected to serve the clinic better.
Humans
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Multiomics
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Lymphoma/genetics*
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Cell-Free Nucleic Acids
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Genomics/methods*
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DNA Copy Number Variations
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Ubiquitin-Protein Ligases
5.Review of genome-wide association research of aging phenotypes.
Yue Qing WANG ; Meng XIAO ; Hai Ming YANG ; Ming Yu SONG ; Yu Xuan ZHAO ; Yuan Jie PANG ; Wen Jing GAO ; Wei Hua CAO ; Tao HUANG ; Can Qing YU ; Jun LYU ; Li Ming LI ; Dian Jian Yi SUN
Chinese Journal of Epidemiology 2022;43(8):1338-1342
"Active health" has been emphasized in "Healthy China 2030" in dealing with the challenges of population aging, so the anti-aging strategies are requires to be more precise and effective at both individual and population levels. Aging is influenced by both genetic and environmental factors. In the recent 20 years, the research of genetics of human ageing has been greatly facilitated owning to the development of high-throughput sequencing techniques, statistical methodology for multi-omics data, as well as the growing qualified evidence of large-scale population-based genomic research. This paper provides a review of genome-wide association research of aging.
Aging/genetics*
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Genome-Wide Association Study/methods*
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Genomics/methods*
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High-Throughput Nucleotide Sequencing
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Humans
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Phenotype
6.Advances and Application of Genomics in Chronic Obstructive Pulmonary Disease.
Lin-Fan SU ; Hong-Mei ZHAO ; Yi XIAO
Acta Academiae Medicinae Sinicae 2022;44(4):668-672
Chronic obstructive pulmonary disease (COPD) is a common and frequently-occurring disease in the department of respiratory medicine,the pathogenesis of which involves both environmental factors and genetic factors.In recent years,with the application of new methods such as genome-wide association study,researchers have discovered a large number of gene mutations associated with lung function and COPD,providing a new perspective on the pathogenesis of COPD and potential therapeutic targets.This article reviews the research achievements and application progress of genomics in COPD.
Genome-Wide Association Study/methods*
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Genomics
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Humans
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Pulmonary Disease, Chronic Obstructive/genetics*
7.Multi-omics technology and its applications to life sciences: a review.
Jingfang LIU ; Weilin LI ; Li WANG ; Juan LI ; Erwei LI ; Yuanming LUO
Chinese Journal of Biotechnology 2022;38(10):3581-3593
With technological advances in high-throughput sequencing, high resolution mass-spectrometry, and multi-omics data integrative tools and data repositories, the omics research in life sciences are evolving from single-omics strategy to multi-omics strategy. The research of system biology driven by multi-omics will bring a new paradigm in life sciences. This paper briefly summarizes the development of genomics, epigenomics, transcriptomics, proteomics and metabolomics, highlights the composition and function of multi-omics platforms as well as the applications of multi-omics technology, and prospects future applications of multi-omics in synthetic biology and biomedicine.
Genomics
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Proteomics/methods*
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Metabolomics/methods*
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Epigenomics/methods*
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Technology
8.Twenty years in the 21st century: research approaches and techniques in modern system biology for mechanisms of Chinese medicinal processing.
Shu-Chen GUO ; De-Tian LI ; Shi-Kui LIANG ; Wei WU ; Bing YANG ; Liang FENG ; Xiao-Bin JIA
China Journal of Chinese Materia Medica 2022;47(5):1170-1176
Clarifying the mechanisms of Chinese medicinal processing is pivotal to the modernization of Chinese medicine. Research on Chinese medicinal processing gives priority to the mechanisms of the processing in enhancing efficacy, reducing toxicity, and repurposing medicinals. During the past 20 years, scholars have carried out in-depth studies on the mechanisms of Chinese medicinal processing via modern system biology. They mainly focused on the changes of medicinal properties and efficacy caused by processing using techniques of modern pharmacology and molecular biology, spectrum-efficacy correlation, and biophoton emission. However, these techniques fail to reflect the holistic view of traditional Chinese medicine. With the introduction of system biology, multi-omics techno-logies(genomics, transcriptomics, proteomics, and metabolomics) have surged, which have been applied to the research on the mec-hanisms of Chinese medicinal processing. These multi-omics technologies have advantages in the research on holism. This study aims to summarize the research techniques and approaches in system biology for mechanisms of Chinese medicinal processing in the past 20 years and analyze the limitations and advantages of them. It is concluded that the multi-omics techniques of system biology can reconstruct the mechanisms of Chinese medicinal processing. This study provides a new direction for further research on the mechanisms of Chinese medicinal processing.
China
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Genomics
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Medicine, Chinese Traditional
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Metabolomics/methods*
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Proteomics
9.Application of genomic copy number variation detection technology in prenatal diagnosis of 7617 pregnant women with serological screening abnormalities during the second trimester of pregnancy.
Jia HUANG ; Dong WU ; Yue GAO ; Qiancheng LI ; Chaoyang ZHANG ; Jiahuan HE ; Xi LI ; Hongdan WANG ; Qiannan GUO ; Guiyu LOU ; Yue WANG ; Hongyan LIU
Chinese Journal of Medical Genetics 2022;39(5):468-473
OBJECTIVE:
To analyze the genomic variation characteristics of fetal with abnormal serological screening, and to further explore the value of copy number variation (CNV) detection technology in prenatal diagnosis of fetal with abnormal serological screening.
METHODS:
7617 singleton pregnant women who underwent amniocentesis for prenatal diagnosis solely due to abnormal Down's serological screening were selected. According to the results of serological screening, the patients were divided into high risk group, borderline risk group and single abnormal multiple of median (MOM) group. CMA and CNV-Seq were used to detect the copy number variation of amniotic fluid cell genomic DNA and combined with amniotic fluid cell karyotype analysis for prenatal diagnosis. Outpatient revisit combined with telephone inquiry was used for postnatal follow-up.
RESULTS:
Among 7617 amniotic fluid samples, aneuploidy was detected in 138cases (1.81%) by CMA and CNV-Seq, 9 cases of aneuploid chimerism were detected by amniotic fluid cell karyotype analysis, and 203 cases of fetus carrying pathogenic and likely pathogenic CNV (P/LP CNV) were detected, the variant of uncertain significance (VUS) was detected in 437 cases (5.7%), the overall abnormal detection rate was 10.33%. The detection rate of aneuploidy by CMA and CNV-Seq in three group were 123 cases (2.9%), 13 cases (1.3%) and 2 cases (0.4%), respectively,and showing no significant difference (χ 2=7.469, P=0.024). The detection rate of pathogenic and likely pathogenic CNV in three group were 163cases (2.6%); 24 cases (2.6%) and 16 cases (3.3%), respectively, and showing no significant difference (χ 2=0.764, P=0.682). The CMA reported 2.9% (108/3729)P/LP CNV, and CNV-seq reported 2.4% (95/3888)P/LP CNV, both tests showed similar detective capabilities (χ 2=1.504, P=0.22).The most popular P/LP CNV in this cohort were Xp22.31 microdeletion, 16p13.11 microduplication /microdeletion, 22q11.21 microduplication /microdeletion. In fetuses with P/LP CNV CNV, 59 fetuses were terminated pregnancy, and 32 of 112 fetuses born had abnormal clinical manifestations. Non-medically necessary termination of pregnancy occurred in 11 fetuses carrying VUS CNV, 322 fetuses carrying VUS CNV were born, 4 of them presented abnormal clinical manifestations.
CONCLUSION
Compared with the traditional chromosome karyotype, CMA and CNV-Seq can improve the detection rate of pathogenic and likely pathogenic CNV. CMA and CNV-seq can be used for first tier diagnosis of pregnant women in the general population with abnormal Down's serological screening.
Amniotic Fluid
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Aneuploidy
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Chromosome Aberrations
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DNA Copy Number Variations
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Female
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Genomics
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Humans
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Pregnancy
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Pregnancy Trimester, Second
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Pregnant Women
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Prenatal Diagnosis/methods*
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Technology
10.Global Quantitative Mapping of Enhancers in Rice by STARR-seq.
Jialei SUN ; Na HE ; Longjian NIU ; Yingzhang HUANG ; Wei SHEN ; Yuedong ZHANG ; Li LI ; Chunhui HOU
Genomics, Proteomics & Bioinformatics 2019;17(2):140-153
Enhancers activate transcription in a distance-, orientation-, and position-independent manner, which makes them difficult to be identified. Self-transcribing active regulatory region sequencing (STARR-seq) measures the enhancer activity of millions of DNA fragments in parallel. Here we used STARR-seq to generate a quantitative global map of rice enhancers. Most enhancers were mapped within genes, especially at the 5' untranslated regions (5'UTR) and in coding sequences. Enhancers were also frequently mapped proximal to silent and lowly-expressed genes in transposable element (TE)-rich regions. Analysis of the epigenetic features of enhancers at their endogenous loci revealed that most enhancers do not co-localize with DNase I hypersensitive sites (DHSs) and lack the enhancer mark of histone modification H3K4me1. Clustering analysis of enhancers according to their epigenetic marks revealed that about 40% of identified enhancers carried one or more epigenetic marks. Repressive H3K27me3 was frequently enriched with positive marks, H3K4me3 and/or H3K27ac, which together label enhancers. Intergenic enhancers were also predicted based on the location of DHS regions relative to genes, which overlap poorly with STARR-seq enhancers. In summary, we quantitatively identified enhancers by functional analysis in the genome of rice, an important model plant. This work provides a valuable resource for further mechanistic studies in different biological contexts.
Acetylation
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Base Sequence
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Deoxyribonuclease I
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metabolism
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Enhancer Elements, Genetic
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Epigenesis, Genetic
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Genes, Plant
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Genomics
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methods
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Histone Code
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genetics
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Histones
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metabolism
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Models, Genetic
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Oryza
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genetics
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Promoter Regions, Genetic
;
genetics
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Repetitive Sequences, Nucleic Acid
;
genetics
;
Sequence Analysis, DNA
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Transcription, Genetic

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