Article
Mutation intolerant genes and targets of FMRP are enriched for nonsynonymous alleles in schizophrenia.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Oct 2017
Leonenko Ganna, Richards Alexander L, Walters James T, Pocklington Andrew, Chambert Kimberly, Al Eissa Mariam M, Sharp Sally I, O'Brien Niamh L, Curtis David, Bass Nicholas J, McQuillin Andrew, Hultman Christina, Moran Jennifer L, McCarroll Steven A, Sklar Pamela, Neale Benjamin M, Holmans Peter A, Owen Michael J, Sullivan Patrick F, O'Donovan Michael C
Abstract excerpt
Risk of schizophrenia is conferred by alleles occurring across the full spectrum of frequencies from common SNPs of weak effect through to ultra rare alleles, some of which may be moderately to highly penetrant. Previous studies have suggested that some of the risk of schizophrenia is attributable to uncommon alleles represented on Illumina exome arrays. Here, we present the largest study of exomic variation in...
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