Article
Shifting the focus toward rare variants in schizophrenia to close the gap from genotype to phenotype.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Oct 2017
Bustamante M Leonor, Herrera Luisa, Gaspar Pablo A, Nieto Rodrigo, Maturana Alejandro, Villar María José, Salinas Valeria, Silva Hernán
Abstract excerpt
Schizophrenia (SZ) is a disorder with a high heritability and a complex architecture. Several dozen genetic variants have been identified as risk factors through genome-wide association studies including large population-based samples. However, the bulk of the risk cannot be accounted for by the genes associated to date. Rare mutations have been historically seen as relevant only for some infrequent, Mendelian...
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