Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia

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http://hdl.handle.net/10138/162748

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Rees , E , Kirov , G , Walters , J T , Richards , A L , Howrigan , D , Kavanagh , D H , Pocklington , A J , Fromer , M , Ruderfer , D M , Georgieva , L , Carrera , N , Gormley , P , Palta , P , Williams , H , Dwyer , S , Johnson , J S , Roussos , P , Barker , D D , Banks , E , Milanova , V , Rose , S A , Chambert , K , Mahajan , M , Scolnick , E M , Moran , J L , Tsuang , M T , Glatt , S J , Chen , W J , Hwu , H-G , Neale , B M , Palotie , A , Sklar , P , Purcell , S M , McCarroll , S A , Holmans , P , Owen , M J , O'Donovan , M C & Taiwanese Trios Exome Sequencing C 2015 , ' Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia ' , Translational Psychiatry , vol. 5 . https://doi.org/10.1038/tp.2015.99

Title: Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia
Author: Rees, E.; Kirov, G.; Walters, J. T.; Richards, A. L.; Howrigan, D.; Kavanagh, D. H.; Pocklington, A. J.; Fromer, M.; Ruderfer, D. M.; Georgieva, L.; Carrera, N.; Gormley, P.; Palta, P.; Williams, H.; Dwyer, S.; Johnson, J. S.; Roussos, P.; Barker, D. D.; Banks, E.; Milanova, V.; Rose, S. A.; Chambert, K.; Mahajan, M.; Scolnick, E. M.; Moran, J. L.; Tsuang, M. T.; Glatt, S. J.; Chen, W. J.; Hwu, H-G; Neale, B. M.; Palotie, A.; Sklar, P.; Purcell, S. M.; McCarroll, S. A.; Holmans, P.; Owen, M. J.; O'Donovan, M. C.; Taiwanese Trios Exome Sequencing C
Contributor: University of Helsinki, Institute for Molecular Medicine Finland
University of Helsinki, Broad Inst, Broad Institute, Massachusetts Institute of Technology (MIT), Harvard University, Program Med & Populat Genet
Date: 2015-07-21
Language: eng
Number of pages: 6
Belongs to series: Translational Psychiatry
ISSN: 2158-3188
URI: http://hdl.handle.net/10138/162748
Abstract: Genetic associations involving both rare and common alleles have been reported for schizophrenia but there have been no systematic scans for rare recessive genotypes using fully phased trio data. Here, we use exome sequencing in 604 schizophrenia proband-parent trios to investigate the role of recessive (homozygous or compound heterozygous) nonsynonymous genotypes in the disorder. The burden of recessive genotypes was not significantly increased in probands at either a genome-wide level or in any individual gene after adjustment for multiple testing. At a system level, probands had an excess of nonsynonymous compound heterozygous genotypes (minor allele frequency, MAF
Subject: DE-NOVO MUTATIONS
GENOME-WIDE ASSOCIATION
INTELLECTUAL DISABILITY
VARIANTS
CONSANGUINITY
HOMOZYGOSITY
SPECTRUM
AUTISM
RISK
LOCI
3124 Neurology and psychiatry
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