Article
Using mechanistic models for the clinical interpretation of complex genomic variation.
Scientific reports - 12 Dec 2019
Peña-Chilet María, Esteban-Medina Marina, Falco Matias M, Rian Kinza, Hidalgo Marta R, Loucera Carlos, Dopazo Joaquín
Abstract excerpt
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 has been far less successful. Many complex diseases are actually a consequence of the failure of complex biological...
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