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Titel:

The diagnosis of inborn errors of metabolism by an integrative “multi‐omics” approach: a perspective encompassing genomics, transcriptomics and proteomics

Dokumenttyp:
Zeitschriftenaufsatz
Autor(en):
Stenton, Sarah Louise; Kremer, Laura Sophie; Kopajtich, Robert; Ludwig, Christina; Prokisch, Holger
Abstract:
Given the rapidly decreasing cost and increasing speed and accessibility of massively parallel technologies, the integration of comprehensive genomic, transcriptomic, and proteomic data into a "multi-omics" diagnostic pipeline is within reach. Even though genomic analysis has the capability to reveal all possible perturbations in our genetic code, analysis typically reaches a diagnosis in just 35% of cases, with a diagnostic gap arising due to limitations in prioritization and interpretation of...     »
Stichworte:
BayBioMS; Diagnostics; Genomics; Multi-omics; Proteomics; Transcriptomics
Zeitschriftentitel:
Journal of Inherited Metabolic Disease
Jahr:
2019
Volltext / DOI:
doi:10.1002/jimd.12130
Verlag / Institution:
Wiley
E-ISSN:
0141-89551573-2665
Publikationsdatum:
22.05.2019
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