Omics-Based Strategies in Precision Medicine: Toward a Paradigm Shift in Inborn Errors of Metabolism Investigations

International Journal of Molecular Sciences

Soumeya Bekri¹  Abdellah Tebani¹  Carlos Afonso²  Stéphane Marret³ 

[1] Department of Metabolic Biochemistry, Rouen University Hospital, 76031 Rouen, France;Normandie University, UNIROUEN, INSA Rouen, CNRS, COBRA, 76000 Rouen, France;Normandie University, UNIROUEN, INSERM, CHU Rouen, Laboratoire NeoVasc ERI28, 76000 Rouen, France;

关键词: omics;    next-generation sequencing;    mass spectrometry;    machine learning;    chemometrics;    data integration;    bioinformatics;    biomarkers;    inborn errors of metabolism;    precision medicine;   

DOI  :  10.3390/ijms17091555

来源: DOAJ

【 摘 要 】

The rise of technologies that simultaneously measure thousands of data points represents the heart of systems biology. These technologies have had a huge impact on the discovery of next-generation diagnostics, biomarkers, and drugs in the precision medicine era. Systems biology aims to achieve systemic exploration of complex interactions in biological systems. Driven by high-throughput omics technologies and the computational surge, it enables multi-scale and insightful overviews of cells, organisms, and populations. Precision medicine capitalizes on these conceptual and technological advancements and stands on two main pillars: data generation and data modeling. High-throughput omics technologies allow the retrieval of comprehensive and holistic biological information, whereas computational capabilities enable high-dimensional data modeling and, therefore, accessible and user-friendly visualization. Furthermore, bioinformatics has enabled comprehensive multi-omics and clinical data integration for insightful interpretation. Despite their promise, the translation of these technologies into clinically actionable tools has been slow. In this review, we present state-of-the-art multi-omics data analysis strategies in a clinical context. The challenges of omics-based biomarker translation are discussed. Perspectives regarding the use of multi-omics approaches for inborn errors of metabolism (IEM) are presented by introducing a new paradigm shift in addressing IEM investigations in the post-genomic era.

【 授权许可】

Unknown