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Multi-omics combine genetic predisposition with environment factors. Multi-omics can combine genetic predisposition, RNA regulation, and environmental exposure factors to describe diseases comprehensively and intensively.
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Retinal vascular disease is a highly prevalent vision-threatening ocular disease in the global population; however, its exact mechanism remains unclear. The expansion of omics technologies has revolutionized a new medical research methodology that combines multiple omics data derived from the same patients to generate multi-dimensional and multi-ev...
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... the genetic variants identified to date only explain a small part of certain phenotypes, and additional non-genetic factors, such as diet, lifestyle, and other environmental factors, likely in conjunction with susceptibility genes, commonly influence the pathogenesis of diseases. The integration of genomics, transcriptomics, and epigenomics can combine genetic predisposition and RNA regulation with environmental factors to comprehensively and intensively describe diseases, as illustrated in Figure 1. Genomics is the main method used to identify disease-associated genetic variants, contributing to genetic risk prediction of different disease etiologies. ...
Citations
... The multiomics technologies facilitate researchers to uncover underlying mechanistic insights into disease pathophysiology and delineate the landscape of clinical phenotypes. Multiomics provides an integrated perspective across multiple levels, while single omics data can only partially explain one aspect of complex biological processes [11]. The transcriptomic and proteomic data combined analysis pipeline supports differential expression analysis, correlation between messenger RNA (mRNA) and protein abundance, functional annotation and enrichment, GSVA [12], and interactive visualization including Venn, quadrant diagram, nine quadrant diagram, bubble plot, box plot, and donut plot. ...
Majorbio Cloud (https://cloud.majorbio.com/) is a one‐stop online analytic platform aiming at promoting the development of bioinformatics services, narrowing the gap between wet and dry experiments, and accelerating the discoveries for the life sciences community. In 2024, three single‐omics workflows, two multiomics workflows, and extensions were newly released to facilitate omics data mining and interpretation. image
... Although IRDs occur due to mutations in the causative gene, the exact molecular mechanisms remain unclear, and more effective treatment strategies are to be discovered [114,115]. With advances in high-throughput sequencing technology, genomics, epigenomics, transcriptomics, proteomics, metabolomics, and single cell-omics are frequently used in research to better understand biological processes at the gene, protein, and metabolic levels and discover new biomarkers and therapeutic targets [116]. However, single omics data is insufficient for studying systems biology across multiple levels. ...
Inherited retinal diseases (IRDs) can induce severe sight-threatening retinal degeneration and impose a considerable economic burden on patients and society, making efforts to cure blindness imperative. Transgenic animals mimicking human genetic diseases have long been used as a primary research tool to decipher the underlying pathogenesis, but there are still some obvious limitations. As an alternative strategy, patient-derived induced pluripotent stem cells (iPSCs), particularly three-dimensional (3D) organoid technology, are considered a promising platform for modeling different forms of IRDs, including retinitis pigmentosa, Leber congenital amaurosis, X-linked recessive retinoschisis, Batten disease, achromatopsia, and best vitelliform macular dystrophy. Here, this paper focuses on the status of patient-derived iPSCs and organoids in IRDs in recent years concerning disease modeling and therapeutic exploration, along with potential challenges for translating laboratory research to clinical application. Finally, the importance of human iPSCs and organoids in combination with emerging technologies such as multi-omics integration analysis, 3D bioprinting, or microfluidic chip platform are highlighted. Patient-derived retinal organoids may be a preferred choice for more accurately uncovering the mechanisms of human retinal diseases and will contribute to clinical practice.
