TY - JOUR
T1 - Edgotype
T2 - A fundamental link between genotype and phenotype
AU - Sahni, Nidhi
AU - Yi, Song
AU - Zhong, Quan
AU - Jailkhani, Noor
AU - Charloteaux, Benoit
AU - Cusick, Michael E.
AU - Vidal, Marc
PY - 2013/12
Y1 - 2013/12
N2 - Classical 'one-gene/one-disease' models cannot fully reconcile with the increasingly appreciated prevalence of complicated genotype-to-phenotype associations in human disease. Genes and gene products function not in isolation but as components of intricate networks of macromolecules (DNA, RNA, or proteins) and metabolites linked through biochemical or physical interactions, represented in 'interactome' network models as 'nodes' and 'edges', respectively. Accordingly, mechanistic understanding of human disease will require understanding of how disease-causing mutations affect systems or interactome properties. The study of 'edgetics' uncovers specific loss or gain of interactions (edges) to interpret genotype-to-phenotype relationships. We review how distinct genetic variants, the genotype, lead to distinct phenotypic outcomes, the phenotype, through edgetic perturbations in interactome networks altogether representing the 'edgotype'.
AB - Classical 'one-gene/one-disease' models cannot fully reconcile with the increasingly appreciated prevalence of complicated genotype-to-phenotype associations in human disease. Genes and gene products function not in isolation but as components of intricate networks of macromolecules (DNA, RNA, or proteins) and metabolites linked through biochemical or physical interactions, represented in 'interactome' network models as 'nodes' and 'edges', respectively. Accordingly, mechanistic understanding of human disease will require understanding of how disease-causing mutations affect systems or interactome properties. The study of 'edgetics' uncovers specific loss or gain of interactions (edges) to interpret genotype-to-phenotype relationships. We review how distinct genetic variants, the genotype, lead to distinct phenotypic outcomes, the phenotype, through edgetic perturbations in interactome networks altogether representing the 'edgotype'.
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U2 - 10.1016/j.gde.2013.11.002
DO - 10.1016/j.gde.2013.11.002
M3 - Review article
C2 - 24287335
AN - SCOPUS:84889606541
SN - 0959-437X
VL - 23
SP - 649
EP - 657
JO - Current Opinion in Genetics and Development
JF - Current Opinion in Genetics and Development
IS - 6
ER -