Mostrar el registro sencillo del ítem

dc.contributor.author
Piñero Gonzalez, Janet
dc.contributor.author
Berenstein, Ariel José
dc.contributor.author
González Pérez, Abel
dc.contributor.author
Chernomoretz, Ariel
dc.contributor.author
Furlong, Laura Ines
dc.date.available
2018-06-08T16:59:15Z
dc.date.issued
2016-04
dc.identifier.citation
Piñero Gonzalez, Janet; Berenstein, Ariel José; González Pérez, Abel; Chernomoretz, Ariel; Furlong, Laura Ines; Uncovering disease mechanisms through network biology in the era of Next Generation Sequencing; Nature Publishing Group; Scientific Reports; 6; 4-2016; 1-12
dc.identifier.issn
2045-2322
dc.identifier.uri
http://hdl.handle.net/11336/47877
dc.description.abstract
Characterizing the behavior of disease genes in the context of biological networks has the potential to shed light on disease mechanisms, and to reveal both new candidate disease genes and therapeutic targets. Previous studies addressing the network properties of disease genes have produced contradictory results. Here we have explored the causes of these discrepancies and assessed the relationship between the network roles of disease genes and their tolerance to deleterious germline variants in human populations leveraging on: the abundance of interactome resources, a comprehensive catalog of disease genes and exome variation data. We found that the most salient network features of disease genes are driven by cancer genes and that genes related to different types of diseases play network roles whose centrality is inversely correlated to their tolerance to likely deleterious germline mutations. This proved to be a multiscale signature, including global, mesoscopic and local network centrality features. Cancer driver genes, the most sensitive to deleterious variants, occupy the most central positions, followed by dominant disease genes and then by recessive disease genes, which are tolerant to variants and isolated within their network modules.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Nature Publishing Group
dc.rights
info:eu-repo/semantics/restrictedAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
Next Generation Sequencing
dc.subject
Diseases Genetics
dc.subject
Genome Informatics
dc.subject
Network Topology
dc.subject
Classification And Taxonomy
dc.subject.classification
Otras Ciencias Biológicas
dc.subject.classification
Ciencias Biológicas
dc.subject.classification
CIENCIAS NATURALES Y EXACTAS
dc.title
Uncovering disease mechanisms through network biology in the era of Next Generation Sequencing
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2018-06-01T13:56:08Z
dc.journal.volume
6
dc.journal.pagination
1-12
dc.journal.pais
Estados Unidos
dc.journal.ciudad
Washington DC
dc.description.fil
Fil: Piñero Gonzalez, Janet. Universitat Pompeu Fabra; España
dc.description.fil
Fil: Berenstein, Ariel José. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Ciudad Universitaria. Instituto de Física de Buenos Aires. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Instituto de Física de Buenos Aires; Argentina. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Departamento de Física; Argentina
dc.description.fil
Fil: González Pérez, Abel. Universitat Pompeu Fabra; España
dc.description.fil
Fil: Chernomoretz, Ariel. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Ciudad Universitaria. Instituto de Física de Buenos Aires. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Instituto de Física de Buenos Aires; Argentina. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Departamento de Física; Argentina
dc.description.fil
Fil: Furlong, Laura Ines. Universitat Pompeu Fabra; España
dc.journal.title
Scientific Reports
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/http://www.nature.com/articles/srep24570
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1038/srep24570


Archivos asociados

Documento no disponible

Comunidades y colecciones

Mostrar el registro sencillo del ítem