ReviewPediatric research2025
Implementation of multi-omics in diagnosis of pediatric rare diseases.
Review in Pediatric research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
13 citing papers in PubMed.
- Epigenetics and In Silico Transcriptome Analysis of Pediatric Acute Myeloid Leukemia.European journal of haematology · 2026Review
- Genomic Strategies in Pediatric Care: Addressing Rare Diseases in Children.Children (Basel, Switzerland) · 2026Review
- Integrating omics and artificial intelligence in pediatric environmental health: tools, challenges, and cohort-based insights.Pediatric research · 2026Review
- RD-OMICS: An Integrative Multi-Omics Data Inventory in Rare Diseases.bioRxiv : the preprint server for biology · 2026Article
- miR-155-3p in Systemic Lupus Erythematosus: Association with Immune Activation and Renal-Related Parameters.Applied biochemistry and biotechnology · 2026Article
- Pediatric health: mechanistic insights into inflammatory diseases and emerging therapeutic pathway-targeted approaches.Translational pediatrics · 2026Review
- Unifying the odyssey: artificial intelligence for rare disease diagnosis and therapy.Health and technology · 2026Article
- Proteomic biomarkers for early diagnosis and prognosis in pediatric sepsis.World journal of clinical pediatrics · 2026Article
- Mass Spectrometry-Based Metabolomics in Pediatric Health and Disease.Metabolites · 2026Review
- Hereditary spastic paraplegia: from decades of therapy to future innovations.Therapeutic advances in neurological disorders · 2026Review
- From Variant Interpretation to Biomarker Translation: Multi-omics Integration in Inherited Neuromuscular Diseases.Human mutation · 2026Review
- MOLGENIS VIP: an end-to-end DNA variant interpretation pipeline for research and diagnostics configurable to support rapid implementation of new methods.NAR genomics and bioinformatics · 2025Article
- T cells in the microenvironment of solid pediatric tumors: the case of neuroblastoma.Frontiers in immunology · 2025Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The rapid and accurate diagnosis of rare diseases is paramount in directing clinical management. In recent years, the integration of multi-omics approaches has emerged as a potential strategy to overcome diagnostic hurdles. This review examines the application of multi-omics technologies, including genomics, epigenomics, transcriptomics, proteomics, and metabolomics, in relation to the diagnostic journey of rare diseases. We explore how these combined approaches enhance the detection of pathogenic genetic variants and decipher molecular mechanisms. This review highlights the groundbreaking potential of multi-omics in advancing the precision medicine paradigm for rare diseases, offering insights into future directions and clinical applications. IMPACT: This review discusses using current tests and emerging technologies to diagnose pediatric rare diseases. We describe the next steps after inconclusive molecular testing and a structure for using multi-omics in further investigations. The use of multi-omics is expanding, and it is essential to incorporate it into clinical practice to enhance individualized patient care.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.