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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)
Verlagsversion DOI PMC
Open Access Hybrid
Creative Commons Lizenzvertrag
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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Publikationstyp Artikel: Journalartikel
Dokumenttyp Review
Schlagwörter 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
Sprache englisch
Veröffentlichungsjahr 2023
HGF-Berichtsjahr 2023
ISSN (print) / ISBN 0141-8955
e-ISSN 1573-2665
Zeitschrift Journal of Inherited Metabolic Disease
Quellenangaben Band: 46, Heft: 5, Seiten: 824-838 Artikelnummer: , Supplement: ,
Verlag Springer
Verlagsort 111 River St, Hoboken 07030-5774, Nj Usa
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Neurogenomics (ING)
POF Topic(s) 30205 - Bioengineering and Digital Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-503292-001
Förderungen 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.
DOI 10.1002/jimd.12663
WOS ID 001063189000008
Scopus ID 85170004067
PubMed ID 37553850
Erfassungsdatum 2023-10-06
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