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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)
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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Publication type
Article: Edited volume or book chapter
ISSN (print) / ISBN
9783030721848
Book Volume Title
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, Second Edition
Quellenangaben
Pages: 147-162
Non-patent literature
Publications
Institute(s)
Institute of Neurogenomics (ING)