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Lookup NU author(s): Dr Andreas Roos, Rachel ThompsonORCiD, Professor Rita HorvathORCiD, Professor Hanns Lochmuller
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© 2017 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim. Despite recent rapid advances in sequencing technologies, a significant proportion of patients with rare genetic disorders do not receive a genetic diagnosis after exhaustive testing, and even fewer have a potential therapeutic target identified. Taking rare neuromuscular and neurodegenerative disorders as a paradigm that can be extended to other rare Mendelian disorders, this viewpoint explores the opportunities that are brought about by the integration of genomics and proteomics, as well as the limitations and remaining challenges of this newly emerging field of proteogenomics. The relevance of combining proteomic findings with genetic results for diagnosis and gene discovery is illustrated, highlighting the insights the combined analysis provides into the underlying biology and aetiology as well as the limitations of the experimental techniques. A final discussion focuses on the importance of mechanisms to enable the sharing, reuse, and analysis of source experimental data and describes some of the international initiatives that are making progress in this area.
Author(s): Roos A, Thompson R, Horvath R, Lochmuller H, Sickmann A
Publication type: Article
Publication status: Published
Journal: Proteomics - Clinical Applications
Year: 2018
Volume: 12
Issue: 2
Print publication date: 01/03/2018
Online publication date: 23/10/2017
Acceptance date: 30/07/2017
ISSN (print): 1862-8346
ISSN (electronic): 1862-8354
Publisher: Wiley-VCH Verlag
URL: https://doi.org/10.1002/prca.201700073
DOI: 10.1002/prca.201700073
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