Using mechanistic models for the clinical interpretation of complex genomic variation

The sustained generation of genomic data in the last decade has increased the knowledge on the causal mutations of a large number of diseases, especially for highly penetrant Mendelian diseases, typically caused by a unique or a few genes. However, the discovery of causal genes in complex diseases h...

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Detalles Bibliográficos
Autores principales: Peña-Chilet, María, Esteban-Medina, Marina, Falco, Matias M., Rian, Kinza, Hidalgo, Marta R., Loucera, Carlos, Dopazo, Joaquín
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6908734/
https://www.ncbi.nlm.nih.gov/pubmed/31831811
http://dx.doi.org/10.1038/s41598-019-55454-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6908734/
https://www.ncbi.nlm.nih.gov/pubmed/31831811
http://dx.doi.org/10.1038/s41598-019-55454-7

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