Cross-Omics: Integrating Genomics with Metabolomics in Clinical Diagnostics
Next-generation sequencing and next-generation metabolic screening are, independently, increasingly applied in clinical diagnostics of inborn errors of metabolism (IEM). Integrated into a single bioinformatic method, these two –omics technologies can potentially further improve the diagnostic yield...
Main Authors: | Marten H. P. M. Kerkhofs, Hanneke A. Haijes, A. Marcel Willemsen, Koen L. I. van Gassen, Maria van der Ham, Johan Gerrits, Monique G. M. de Sain-van der Velden, Hubertus C. M. T. Prinsen, Hanneke W. M. van Deutekom, Peter M. van Hasselt, Nanda M. Verhoeven-Duif, Judith J. M. Jans |
---|---|
Format: | Article |
Language: | English |
Published: |
MDPI AG
2020-05-01
|
Series: | Metabolites |
Subjects: | |
Online Access: | https://www.mdpi.com/2218-1989/10/5/206 |
Similar Items
-
Untargeted Metabolomics for Metabolic Diagnostic Screening with Automated Data Interpretation Using a Knowledge-Based Algorithm
by: Hanneke A. Haijes, et al.
Published: (2020-02-01) -
Direct Infusion Based Metabolomics Identifies Metabolic Disease in Patients’ Dried Blood Spots and Plasma
by: Hanneke A. Haijes, et al.
Published: (2019-01-01) -
Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio
by: H.A. Haijes, et al.
Published: (2020-03-01) -
Understanding acute metabolic decompensation in propionic and methylmalonic acidemias: a deep metabolic phenotyping approach
by: H. A. Haijes, et al.
Published: (2020-03-01) -
Assessing the Pre-Analytical Stability of Small-Molecule Metabolites in Cerebrospinal Fluid Using Direct-Infusion Metabolomics
by: Hanneke A. Haijes, et al.
Published: (2019-10-01)