The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability.

doi:10.1038/ng.3903

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Article

The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability.

Nature genetics - 1 Aug 2017

Singh Tarjinder, Walters James T R, Johnstone Mandy, Curtis David, Suvisaari Jaana, Torniainen Minna, Rees Elliott, Iyegbe Conrad, Blackwood Douglas, McIntosh Andrew M, Kirov Georg, Geschwind Daniel, Murray Robin M, Di Forti Marta, Bramon Elvira, Gandal Michael, Hultman Christina M, Sklar Pamela, Palotie Aarno, Sullivan Patrick F, O'Donovan Michael C, Owen Michael J, Barrett Jeffrey C

Abstract excerpt

By performing a meta-analysis of rare coding variants in whole-exome sequences from 4,133 schizophrenia cases and 9,274 controls, de novo mutations in 1,077 family trios, and copy number variants from 6,882 cases and 11,255 controls, we show that individuals with schizophrenia carry a significant burden of rare, damaging variants in 3,488 genes previously identified as having a near-complete depletion of...

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PMID: 28650482
DOI: 10.1038/ng.3903
PMCID: PMC5533219

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