Work

From Variant Interpretation to Biomarker Translation: Multi‐omics Integration in Inherited Neuromuscular Diseases

Year: 2026

Type: article

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.

Source: Human Mutation

DOI: 10.1155/humu/9236120

Authors: Suming Zhang, Xiaoling Lang, Lunxin Liu

Institutions: Sichuan University, West China Second University Hospital of Sichuan University, West China Hospital of Sichuan University

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $2,740