Article
Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia.
Translational psychiatry - 21 Jul 2015
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
Abstract excerpt
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...
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