Phenotype-loci associations in networks of patients with rare disorders: application to assist in the diagnosis of novel clinical cases

Copy number variations (CNVs) are genomic structural variations (deletions, duplications, or translocations) that represent the 4.8–9.5% of human genome variation in healthy individuals. In some cases, CNVs can also lead to disease, being the etiology of many known rare genetic/genomic disorders. De...

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Detalles Bibliográficos
Autores principales: Bueno, Anibal, Rodríguez-López, Rocío, Reyes-Palomares, Armando, Rojano, Elena, Corpas, Manuel, Nevado, Julián, Lapunzina, Pablo, Sánchez-Jiménez, Francisca, Ranea, Juan A. G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6138686/
https://www.ncbi.nlm.nih.gov/pubmed/29946186
http://dx.doi.org/10.1038/s41431-018-0139-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6138686/
https://www.ncbi.nlm.nih.gov/pubmed/29946186
http://dx.doi.org/10.1038/s41431-018-0139-x

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