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Analysis of common and rare variants in schizophrenia multiplex families: an strategy to focus beyond gwas


I propose that multiplex FAMILIES APPROACHES REPRESENT AN STRATEGY TO FOCUS BEYOND GWAS. To obtain high throughput genotyping and sequencing data and clinical information from multiplex families may be an important, but currently overlooked, way in which the genetic mechanisms for SZ will be understood. Specifically, my research proposal for the Miguel Servet Program is TO CREATE A REGISTER AND DNA COLLECTION OF MULTIPLEX FAMILIES WITH SZ. The availability of these data will allow developing the following AIMS:
A1. To estimate the familial aggregation of clinical traits. The degree of similarity among family members will be calculated as a proxy index of shared genetic background (see articles 1&11 of CVA).
A2. To estimate Polygenic Risk Scores (PRS) for SZ in all individuals (whole-genome genotyping). To compare the PRS of affected individuals with those of non-affected members and to test its correlation with the clinical traits evaluated.
A3. To analyse the rare variants burden in each family by performing whole-exome sequencing data. To test the causality of the detected rare variants and to analyse their family-uniqueness. (Due to the price of these analyses, within the budget of this proposal these analyses will be developed only in part of the sample, as a preliminary approach).


Instituto de Salud Carlos III, con la cofinanciación de Fondo Europeo de Desarrollo Regional "Una manera de hacer Europa"

Importe de la ayuda

39.993,39 €


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Darrera modificació: 25/01/2021
Generalitat de Catalunya
Unión Europea