Cerebrospinal Fluid Metabolomics and Proteomics Integration in Neurological Syndromes DOI
Haitao Sun,

Shilan Chen,

Jingjing Kong

et al.

Methods in molecular biology, Journal Year: 2025, Volume and Issue: unknown, P. 303 - 321

Published: Jan. 1, 2025

Language: Английский

Applications of multi‐omics analysis in human diseases DOI Creative Commons

Chongyang Chen,

Jing Wang,

Donghui Pan

et al.

MedComm, Journal Year: 2023, Volume and Issue: 4(4)

Published: July 31, 2023

Multi-omics usually refers to the crossover application of multiple high-throughput screening technologies represented by genomics, transcriptomics, single-cell proteomics and metabolomics, spatial so on, which play a great role in promoting study human diseases. Most current reviews focus on describing development multi-omics technologies, data integration, particular disease; however, few them provide comprehensive systematic introduction multi-omics. This review outlines existing technical categories multi-omics, cautions for experimental design, focuses integrated analysis methods especially approach machine learning deep integration corresponding tools, medical researches (e.g., cancer, neurodegenerative diseases, aging, drug target discovery) as well open-source tools databases, finally, discusses challenges future directions precision medicine. With algorithms, important disease research, also provided detailed introduction. will guidance researchers, who are just entering into research.

Language: Английский

Citations

172

Multi-Omics Integration for the Design of Novel Therapies and the Identification of Novel Biomarkers DOI Creative Commons
Tonči Ivanišević, Raj Nayan Sewduth

Proteomes, Journal Year: 2023, Volume and Issue: 11(4), P. 34 - 34

Published: Oct. 20, 2023

Multi-omics is a cutting-edge approach that combines data from different biomolecular levels, such as DNA, RNA, proteins, metabolites, and epigenetic marks, to obtain holistic view of how living systems work interact. has been used for various purposes in biomedical research, identifying new diseases, discovering drugs, personalizing treatments, optimizing therapies. This review summarizes the latest progress challenges multi-omics designing treatments human focusing on integrate analyze multiple proteome examples use multi-proteomics identify drug targets. We also discussed future directions opportunities developing innovative effective therapies by deciphering complexity.

Language: Английский

Citations

47

Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition DOI
Mitchell R. Vollger,

Jonas Korlach,

Kiara C. Eldred

et al.

Nature Genetics, Journal Year: 2025, Volume and Issue: unknown

Published: Jan. 29, 2025

Language: Английский

Citations

8

Emerging paradigms for target discovery of traditional medicines: A genome-wide pan-GPCR perspective DOI Creative Commons

Zenghao Bi,

Huan Li, Yuting Liang

et al.

The Innovation, Journal Year: 2025, Volume and Issue: 6(3), P. 100774 - 100774

Published: Jan. 18, 2025

Traditional medicines serve not only as an integral part of medical treatments prescribed by healthcare providers but also a fundamental reservoir for novel molecular scaffolds. However, gaps remain in our understanding the mechanisms underlying their activity. A superfamily membrane proteins, G protein-coupled receptors (GPCRs), have been demonstrated to be potential targets several compounds isolated from traditional medicines. Given that GPCRs approximately one-third all marketed drugs, they may compelling repurposing Despite this potential, research investigating activity or ligands across GPCRome, library human GPCRs, is scarce. Drawing on functional and structural knowledge presently available, review contemplates prospective trends GPCR drug discovery, proposes innovative strategies medicines, highlights ligand screening approaches identifying drug-like molecules. To discover bioactive molecules either directly bind indirectly modify function, genome-wide pan-GPCR discovery platform was designed identification components targets, evaluation pharmacological profiles. This aims aid exploration all-sided relations between GPCRome using advanced high-throughput techniques. We present various used many, including ourselves, illuminate previously unexplored aspects GPCRs.

Language: Английский

Citations

2

Multi-omics approaches for understanding gene-environment interactions in noncommunicable diseases: techniques, translation, and equity issues DOI Creative Commons

Robel Alemu,

Nigussie Tadesse Sharew,

Yodit Y. Arsano

et al.

Human Genomics, Journal Year: 2025, Volume and Issue: 19(1)

Published: Jan. 31, 2025

Non-communicable diseases (NCDs) such as cardiovascular diseases, chronic respiratory cancers, diabetes, and mental health disorders pose a significant global challenge, accounting for the majority of fatalities disability-adjusted life years worldwide. These arise from complex interactions between genetic, behavioral, environmental factors, necessitating thorough understanding these dynamics to identify effective diagnostic strategies interventions. Although recent advances in multi-omics technologies have greatly enhanced our ability explore interactions, several challenges remain. include inherent complexity heterogeneity multi-omic datasets, limitations analytical approaches, severe underrepresentation non-European genetic ancestries most omics which restricts generalizability findings exacerbates disparities. This scoping review evaluates landscape data related NCDs 2000 2024, focusing on advancements integration, translational applications, equity considerations. We highlight need standardized protocols, harmonized data-sharing policies, advanced approaches artificial intelligence/machine learning integrate study gene-environment interactions. also opportunities translating insights (GxE) research into precision medicine strategies. underscore potential advancing enhancing patient outcomes across diverse underserved populations, emphasizing fairness-centered strategic investments build local capacities underrepresented populations regions.

Language: Английский

Citations

2

Spatial analysis of the osteoarthritis microenvironment: techniques, insights, and applications DOI Creative Commons

Xiwei Fan,

Antonia RuJia Sun, Reuben S. E. Young

et al.

Bone Research, Journal Year: 2024, Volume and Issue: 12(1)

Published: Feb. 4, 2024

Abstract Osteoarthritis (OA) is a debilitating degenerative disease affecting multiple joint tissues, including cartilage, bone, synovium, and adipose tissues. OA presents diverse clinical phenotypes distinct molecular endotypes, inflammatory, metabolic, mechanical, genetic, synovial variants. Consequently, innovative technologies are needed to support the development of effective diagnostic precision therapeutic approaches. Traditional analysis bulk tissue extracts has limitations due technical constraints, causing challenges in differentiation between various physiological pathological This issue led standardization difficulties hindered success trials. Gaining insights into spatial variations cellular structures encompassing DNA, RNA, metabolites, proteins, as well their chemical properties, elemental composition, mechanical attributes, can contribute more comprehensive understanding subtypes. Spatially resolved biology enables biologists investigate cells within context microenvironment, providing holistic view function. Recent advances techniques now allow intact sections be examined using -omics lenses, such genomics, transcriptomics, proteomics, metabolomics, with data. fusion approaches provides researchers critical composition functions tissues at precise coordinates. Furthermore, advanced imaging techniques, high-resolution microscopy, hyperspectral imaging, mass spectrometry enable visualization distribution biomolecules, cells, Linking these outputs conventional histology facilitate characterization phenotypes. review summarizes recent advancements modalities methodologies for in-depth analysis. It explores applications, challenges, potential opportunities field OA. Additionally, this perspective on research directions contemporary that meet requirements diagnoses establishment targets

Language: Английский

Citations

12

Multi-omics Mendelian randomization integrating GWAS, eQTL and pQTL data revealed GSTM4 as a potential drug target for migraine DOI Creative Commons
Xinyue Sun, Bohong Chen,

Yi Qi

et al.

The Journal of Headache and Pain, Journal Year: 2024, Volume and Issue: 25(1)

Published: July 22, 2024

Abstract Introduction Migraine, as a complex neurological disease, brings heavy burden to patients and society. Despite the availability of established therapies, existing medications have limited efficacy. Thus, we aimed find drug targets that improve prognosis migraine. Method We used Mendelian Randomization (MR) Summary-data-based MR (SMR) analyses study possible migraine by summary statistics from FinnGen cohorts (nCase = 44,616, nControl 367,565), with further replication in UK Biobank 26,052, 487,214). Genetic instruments were obtained eQTLGen UKB-PPP verify at gene expression protein levels. The additional including Bayesian co-localization, heterogeneity dependent instruments(HEIDI), Linkage Disequilibrium Score(LDSC), bidirectional MR, multivariate MR(MVMR), test, horizontal pleiotropy Steiger filtering implemented consolidate findings further. Lastly, prediction analysis phenome-wide association study(PheWAS) employed imply possibility for future clinical applications. Result eQTL data showed four (PROCR, GSTM4, SLC4A1, TNFRSF10A) significantly associated risk both cohorts. However, only GSTM4 exhibited consistent effect directions across two outcomes(Discovery cohort: OR(95%CI) 0.94(0.93–0.96); p 2.70e − 10; Replication 0.93(0.91–0.94); 4.21e 17). Furthermore, passed SMR < 0.05 HEIDI test > protein-level revealed strong correlation between genetically predicted lower incidence its subtypes(Overall migraine: 0.91(0.87–0.95); 6.98e-05; Migraine aura(MA): 0.90(0.85–0.96); 2.54e-03; without aura(MO): 0.90(0.83–0.96); 2.87e-03), indicating co-localization relationship (PPH4 0.86). Further provided validation treatment target. Conclusion This identifies potential druggable promising therapeutic target

Language: Английский

Citations

11

An integrative framework to prioritize genes in more than 500 loci associated with body mass index DOI Creative Commons
Daiane Hemerich,

Victor Svenstrup,

Virginia Diez Obrero

et al.

The American Journal of Human Genetics, Journal Year: 2024, Volume and Issue: 111(6), P. 1035 - 1046

Published: May 15, 2024

Obesity is a major risk factor for myriad of diseases, affecting >600 million people worldwide. Genome-wide association studies (GWASs) have identified hundreds genetic variants that influence body mass index (BMI), commonly used metric to assess obesity risk. Most are non-coding and likely act through regulating genes nearby. Here, we apply multiple computational methods prioritize the causal gene(s) within each 536 previously reported GWAS-identified BMI-associated loci. We performed summary-data-based Mendelian randomization (SMR), FINEMAP, DEPICT, MAGMA, transcriptome-wide (TWASs), mutation significance cutoff (MSC), polygenic priority score (PoPS), nearest gene strategy. Results method were weighted based on their success in identifying known be implicated obesity, ranking all prioritized according confidence (minimum: 0; max: 28). 292 high-scoring (≥11) 264 loci, including play role weight regulation (e.g., DGKI, ANKRD26, MC4R, LEPR, BDNF, GIPR, AKT3, KAT8, MTOR) related comorbidities FGFR1, ISL1, TFAP2B, PARK2, TCF7L2, GSK3B). For most genes, however, found limited or no evidence top-scoring BPTF. Many seem neuronal weight, whereas others affect peripheral pathways, circadian rhythm, insulin secretion, glucose carbohydrate homeostasis. The characterization these can increase our understanding underlying biology offer avenues develop therapeutics loss.

Language: Английский

Citations

9

DisGeNet: a disease-centric interaction database among diseases and various associated genes DOI Creative Commons
Yaxuan Hu, Xingli Guo,

Yun Yao

et al.

Database, Journal Year: 2025, Volume and Issue: 2025

Published: Jan. 1, 2025

The pathogenesis of complex diseases is intricately linked to various genes and network medicine has enhanced understanding diseases. However, most network-based approaches ignore interactions mediated by noncoding RNAs (ncRNAs) databases only focus on the association between Based mentioned questions, we have developed DisGeNet, a database focuses not disease-associated but also among genes. Here, associations genes, as well these are integrated into disease-centric network. As result, there total 502 688 interactions/associations involving 6697 diseases, 5780 lncRNAs (long RNAs), 16 135 protein-coding 2610 microRNAs stored in DisGeNet. These can be categorized protein-protein, lncRNA-disease, microRNA-gene, microRNA-disease, gene-disease, microRNA-lncRNA. Furthermore, users input name/ID diseases/genes for search, about search content browsed list or viewed local network-view. Database URL: https://disgenet.cn/.

Language: Английский

Citations

1

Challenges and opportunities for digital twins in precision medicine from a complex systems perspective DOI Creative Commons
Manlio De Domenico,

Luca Allegri,

Guido Caldarelli

et al.

npj Digital Medicine, Journal Year: 2025, Volume and Issue: 8(1)

Published: Jan. 17, 2025

Digital twins (DTs) in precision medicine are increasingly viable, propelled by extensive data collection and advancements artificial intelligence (AI), alongside traditional biomedical methodologies. We argue that including mechanistic simulations produce behavior based on explicitly defined biological hypotheses multiscale mechanisms is beneficial. It enables the exploration of diverse therapeutic strategies supports dynamic clinical decision-making through insights from network science, quantitative biology, digital medicine.

Language: Английский

Citations

1