ReviewHuman mutation2026
From Variant Interpretation to Biomarker Translation: Multi-omics Integration in Inherited Neuromuscular Diseases.
Review in Human mutation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
0 citing papers in PubMed.
No citing paper in PubMed yet.
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
Genetic neuromuscular diseases are highly heterogeneous disorders characterized by diagnostic challenges and limited therapeutic options, underscoring an urgent need for precise biomarkers. The rapid advancement of multi-omics technologies has broadened biomarker discovery from single genomics to multidimensional integrative analyses encompassing transcriptomics, proteomics, and metabolomics. This progression offers opportunities to improve disease diagnosis, subtyping, prognosis assessment, and treatment monitoring. However, translational gaps persist between multi-omics discoveries and clinically applicable biomarkers. This review systematically examines the current application of multi-omics biomarkers in genetic neuromuscular diseases. It provides an in-depth analysis of the multifaceted barriers encountered during the translation process, including technical hurdles, clinical validation complexities, data interpretation challenges, and health system-level obstacles. Furthermore, the review explores emerging solutions including artificial intelligence-assisted decision-making, ethical governance, and policy preparedness. The review aims to offer a framework for constructing a potentially responsible and efficient multi-omics translation in genetic neuromuscular diseases.
Indexed as
Identifiers
What Socratic holds
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 Socratic graph.