Cross-Omics: Integrating Genomics with Metabolomics in Clinical Diagnostics.

ABSTRACT: 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 for IEM. Here, we present cross-omics: a method that uses untargeted metabolomics results of patient's dried blood spots (DBSs), indicated by Z-scores and mapped onto human metabolic pathways, to prioritize potentially affected genes. We demonstrate the optimization of three parameters: (1) maximum distance to the primary reaction of the affected protein, (2) an extension stringency threshold reflecting in how many reactions a metabolite can participate, to be able to extend the metabolite set a

SUBMITTER: Kerkhofs MHPM 

PROVIDER: S-EPMC7281020 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature