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Intersection of Proteomics and Genomics to "Solve the Unsolved" in Rare Disorders such as Neurodegenerative and Neuromuscular Diseases

Lookup NU author(s): Dr Andreas Roos, Rachel Thompson, Professor Rita Horvath, 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.

Publication metadata

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


DOI: 10.1002/prca.201700073


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