Author, as appears in the article.: Halu A, De Domenico M, Arenas A, Sharma A

Department: Enginyeria Informàtica i Matemàtiques

URV's Author/s: Arenas Moreno, Alejandro / DE DOMENICO, MANLIO

Keywords: Systems biology Ontology Online mendelian inheritance Maps Computational biology and bioinformatics Community structure Biology

Abstract: Untangling the complex interplay between phenotype and genotype is crucial to the effective characterization and subtyping of diseases. Here we build and analyze the multiplex network of 779 human diseases, which consists of a genotype-based layer and a phenotype-based layer. We show that diseases with common genetic constituents tend to share symptoms, and uncover how phenotype information helps boost genotype information. Moreover, we offer a flexible classification of diseases that considers their molecular underpinnings alongside their clinical manifestations. We detect cohesive groups of diseases that have high intra-group similarity at both the molecular and the phenotypic level. Inspecting these disease communities, we demonstrate the underlying pathways that connect diseases mechanistically. We observe monogenic disorders grouped together with complex diseases for which they increase the risk factor. We propose potentially new disease associations that arise as a unique feature of the information flow within and across the two layers.

Thematic Areas: Modeling and simulation Mathematical & computational biology General biochemistry,genetics and molecular biology Drug discovery Computer science applications Biochemistry, genetics and molecular biology (miscellaneous) Biochemistry, genetics and molecular biology (all) Applied mathematics

licence for use: https://creativecommons.org/licenses/by/3.0/es/

ISSN: 20567189

Author's mail: alexandre.arenas@urv.cat

Author identifier: 0000-0003-0937-0334

Record's date: 2023-02-18

Papper version: info:eu-repo/semantics/publishedVersion

Link to the original source: https://www.nature.com/articles/s41540-019-0092-5

Licence document URL: http://repositori.urv.cat/ca/proteccio-de-dades/

Papper original source: Npj Syst Biol Appl. 5 (UNSP 15): 15-15

APA: Halu A, De Domenico M, Arenas A, Sharma A (2019). The multiplex network of human diseases. Npj Syst Biol Appl, 5(UNSP 15), 15-15. DOI: 10.1038/s41540-019-0092-5

Article's DOI: 10.1038/s41540-019-0092-5

Entity: Universitat Rovira i Virgili

Journal publication year: 2019

Publication Type: Journal Publications