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Weighted Burden Analysis of Exome-Sequenced Case-Control Sample Implicates Synaptic Genes in Schizophrenia Aetiology.
(2018-05)
A previous study of exome-sequenced schizophrenia cases and controls reported an excess of singleton, gene-disruptive variants among cases, concentrated in particular gene sets. The dataset included a number of subjects ...
Construction of an Exome-Wide Risk Score for Schizophrenia Based on a Weighted Burden Test.
(2018-01)
Polygenic risk scores obtained as a weighted sum of associated variants can be used to explore association in additional data sets and to assign risk scores to individuals. The methods used to derive polygenic risk scores ...
Approaches to the detection of recessive effects using next generation sequencing data from outbred populations.
(2013)
Conventional methods to analyze genome-wide association studies and whole exome or whole genome sequencing studies would be prone to overlook variants which might exert a recessive effect on risk of disease, either as ...
Gene expression imputation across multiple brain regions provides insights into schizophrenia risk
(Springer Nature, 2019-03-25)
Transcriptomic imputation approaches combine eQTL reference panels with large-scale genotype data in order to test associations between disease and gene expression. These genic associations could elucidate signals in complex ...