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Construction of an exome-wide risk score for schizophrenia based on a weighted burden test

Curtis, D; (2017) Construction of an exome-wide risk score for schizophrenia based on a weighted burden test. bioRxiv Green open access

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Abstract

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 from common SNPs are not suitable for variants detected in whole exome sequencing studies. Rare variants which may have major effects are seen too infrequently to judge whether they are associated and may not be shared between training and test subjects. A method is proposed whereby variants are weighted according to their frequency, their annotations and to the genes they affect. A weighted sum across all variants provides an individual risk score. Scores constructed in this way are used in a weighted burden test and are shown to be significantly different between schizophrenia cases and controls using a five-way cross validation procedure. This approach represents a first attempt to summarise exome sequence variation into a summary risk score, which could be combined with risk scores from common variants and from environmental factors. It is hoped that the method could be developed further.

Type: Working / discussion paper
Title: Construction of an exome-wide risk score for schizophrenia based on a weighted burden test
Open access status: An open access version is available from UCL Discovery
DOI: 10.1101/145961
Publisher version: https://doi.org/10.1101/145961
Language: English
Additional information: This is a pre-print version. For information on re-use, please refer to BioRxiv's terms and conditions.
Keywords: Association, exome, schizophrenia
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences > Genetics, Evolution and Environment
URI: http://discovery.ucl.ac.uk/id/eprint/10064660
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