Lacking mechanistic disease definitions and corresponding association data hamper progress in network medicine and beyond

Sadegh S, Skelton J, Anastasi E, Maier A, Adamowicz K, Möller A, Kriege NM, Kronberg J, Haller T, Kacprowski T, Wipat A, Baumbach J, Blumenthal DB (2023)

Publication Type: Journal article

Publication year: 2023

Journal

Nature Communications Nature Publishing Group: Nature Communications

Book Volume: 14

Article Number: 1662

Journal Issue: 1

DOI: 10.1038/s41467-023-37349-4

Abstract

A long-term objective of network medicine is to replace our current, mainly phenotype-based disease definitions by subtypes of health conditions corresponding to distinct pathomechanisms. For this, molecular and health data are modeled as networks and are mined for pathomechanisms. However, many such studies rely on large-scale disease association data where diseases are annotated using the very phenotype-based disease definitions the network medicine field aims to overcome. This raises the question to which extent the biases mechanistically inadequate disease annotations introduce in disease association data distort the results of studies which use such data for pathomechanism mining. We address this question using global- and local-scale analyses of networks constructed from disease association data of various types. Our results indicate that large-scale disease association data should be used with care for pathomechanism mining and that analyses of such data should be accompanied by close-up analyses of molecular data for well-characterized patient cohorts.

Authors with CRIS profile

David Blumenthal Professur für Biomedical Network Science

Involved external institutions

University of Tartu EE Estonia (EE) Technische Universität München (TUM) DE Germany (DE) Newcastle University GB United Kingdom (GB) Universität Hamburg (UHH) DE Germany (DE) Universität Wien / University of Vienna AT Austria (AT) Technische Universität Braunschweig DE Germany (DE)

How to cite

APA:

Sadegh, S., Skelton, J., Anastasi, E., Maier, A., Adamowicz, K., Möller, A.,... Blumenthal, D.B. (2023). Lacking mechanistic disease definitions and corresponding association data hamper progress in network medicine and beyond. Nature Communications, 14(1). https://dx.doi.org/10.1038/s41467-023-37349-4

MLA:

Sadegh, Sepideh, et al. "Lacking mechanistic disease definitions and corresponding association data hamper progress in network medicine and beyond." Nature Communications 14.1 (2023).

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