Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks

Screening for pathogenic variants in the diagnosis of rare genetic diseases can now be performed on all genes thanks to the application of whole exome and genome sequencing (WES, WGS). Yet the repertoire of gene–disease associations is not complete. Several computer-based algorithms and databases in...

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Detalles Bibliográficos
Autores principales: de la Fuente, Lorena, Del Pozo-Valero, Marta, Perea-Romero, Irene, Blanco-Kelly, Fiona, Fernández-Caballero, Lidia, Cortón, Marta, Ayuso, Carmen, Mínguez, Pablo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9864172/
https://www.ncbi.nlm.nih.gov/pubmed/36675175
http://dx.doi.org/10.3390/ijms24021661

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9864172/
https://www.ncbi.nlm.nih.gov/pubmed/36675175
http://dx.doi.org/10.3390/ijms24021661

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