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Stenton, S. ; Mayr, J.A.* ; Wortmann, S. ; Prokisch, H.

Genomic Approaches for the Diagnosis of Inborn Errors of Metabolism.

In: Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, Second Edition. 2022. 147-162 (Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, Second Edition)
DOI
The implementation of whole-exome sequencing (WES) in molecular diagnostics has resulted in increased understanding of the genetic basis of inborn errors of metabolism (IEM) and genotype-phenotype relationships. As a consequence, there has been acceleration in the implementation of genomics in clinical medicine. Though whole-genome sequencing (WGS) is not yet well established in routine clinical practice, increasing evidence of clinical validity and utility is moving WGS towards integration in the near future.
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Publikationstyp Artikel: Sammelbandbeitrag/Buchkapitel
Korrespondenzautor
ISSN (print) / ISBN 9783030721848
Bandtitel Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, Second Edition
Quellenangaben Band: , Heft: , Seiten: 147-162 Artikelnummer: , Supplement: ,
Nichtpatentliteratur Publikationen
Institut(e) Institute of Neurogenomics (ING)