Integrative omics approaches to advance rare disease diagnostics

Over the past decade high-throughput DNA sequencing approaches, namely whole exome and whole genome sequencing became a standard procedure in Mendelian disease diagnostics. Implementation of these technologies greatly facilitated diagnostics and shifted the analysis paradigm from variant identificat...

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Bibliographic Details
Published in:Journal of inherited metabolic disease 2023-09, Vol.46 (5), p.824-838
Main Authors: Smirnov, Dmitrii, Konstantinovskiy, Nikita, Prokisch, Holger
Format: Article
Language:English
Subjects:
DNA fingerprinting
DNA methylation
DNA sequencing
Genetic disorders
Genomes
Inborn errors of metabolism
Metabolomics
Proteomics
Rare diseases
Whole genome sequencing
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Summary:Over the past decade high-throughput DNA sequencing approaches, namely whole exome and whole genome sequencing became a standard procedure in Mendelian disease diagnostics. Implementation of these technologies greatly facilitated diagnostics and shifted the analysis paradigm from variant identification to prioritisation and evaluation. The diagnostic rates vary widely depending on the cohort size, heterogeneity, and disease and range from around 30% to 50% leaving the majority of patients undiagnosed. Advances in omics technologies and computational analysis provide an opportunity to increase these unfavourable rates by providing evidence for disease-causing variant validation and prioritisation. This review aims to provide an overview of the current application of several omics technologies including RNA-sequencing, proteomics, metabolomics and DNA-methylation profiling for diagnostics of rare genetic diseases in general and inborn errors of metabolism in particular. This article is protected by copyright. All rights reserved.
ISSN:0141-8955
1573-2665
DOI:10.1002/jimd.12663