Monica Chagoyen1, Florencio Pazos1. 1. Computational Systems Biology Group, National Centre for Biotechnology (CNB-CSIC), Darwin 3, Madrid 28049, Spain.
Abstract
MOTIVATION: Many diseases are related by shared associated molecules and pathways, exhibiting comorbidities and common phenotypes, an indication of the continuous nature of the human pathological landscape. Although it is continuous, this landscape is always partitioned into discrete diseases when studied at the molecular level. Clinical signs are also important phenotypic descriptors that can reveal the molecular mechanisms that underlie pathological states, but have seldom been the subject of systemic research. Here, we quantify the modular nature of the clinical signs associated with genetic diseases in the human interactome. RESULTS: We found that clinical signs are reflected as modules at the molecular network level, to at least to the same extent as diseases. They can thus serve as a valid complementary partition of the human pathological landscape, with implications for etiology research, diagnosis and treatment. CONTACT: monica.chagoyen@cnb.csic.es SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
MOTIVATION: Many diseases are related by shared associated molecules and pathways, exhibiting comorbidities and common phenotypes, an indication of the continuous nature of the human pathological landscape. Although it is continuous, this landscape is always partitioned into discrete diseases when studied at the molecular level. Clinical signs are also important phenotypic descriptors that can reveal the molecular mechanisms that underlie pathological states, but have seldom been the subject of systemic research. Here, we quantify the modular nature of the clinical signs associated with genetic diseases in the human interactome. RESULTS: We found that clinical signs are reflected as modules at the molecular network level, to at least to the same extent as diseases. They can thus serve as a valid complementary partition of the human pathological landscape, with implications for etiology research, diagnosis and treatment. CONTACT: monica.chagoyen@cnb.csic.es SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
Authors: F M Jabato; Pedro Seoane; James R Perkins; Elena Rojano; Adrián García Moreno; M Chagoyen; Florencio Pazos; Juan A G Ranea Journal: Hum Genet Date: 2020-08-10 Impact factor: 4.132
Authors: Juan A G Ranea; James Perkins; Mónica Chagoyen; Elena Díaz-Santiago; Florencio Pazos Journal: Genes (Basel) Date: 2022-06-17 Impact factor: 4.141