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Smirnov, D. ; Konstantinovskiy, N.* ; Prokisch, H.

Integrative omics approaches to advance rare disease diagnostics.

J. Inherit. Metab. Dis. 46, 824-838 (2023)
Publ. Version/Full Text DOI PMC
Open Access Gold (Paid Option)
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.
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Publication type Article: Journal article
Document type Review
Corresponding Author
Keywords Rna Sequencing ; Episignatures ; Methylomics ; Multi-omics ; Proteomics ; Rare Genetic Disorders; Dna Methylation Signature; Human Phenotype Ontology; Mitochondrial Complex; Inborn-errors; Identification; Transcriptome; Variants; Genes; Association; Reanalysis
ISSN (print) / ISBN 0141-8955
e-ISSN 1573-2665
Journal Journal of Inherited Metabolic Disease
Quellenangaben Volume: 46, Issue: 5, Pages: 824-838 Article Number: , Supplement: ,
Publisher Springer
Publishing Place 111 River St, Hoboken 07030-5774, Nj Usa
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Neurogenomics (ING)
Grants We would like to thank the Prokisch lab members for the constructive discussions on the future applications of multi-omics in molecular diagnostics. Open Access funding enabled and organized by Projekt DEAL.