Related Experiment Video
Updated: Aug 6, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
From Variant Interpretation to Biomarker Translation: Multi-omics Integration in Inherited Neuromuscular Diseases
Suming Zhang1, Xiaoling Lang2, Lunxin Liu3
1Department of Radiology, Key Laboratory of Obstetric & Gynecologic and Pediatric Disease and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China, scu.edu.cn.
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.
Related Concept Videos
Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Pharmacogenomics: Identification of New Drug Targets
Genomics

