Article
CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1.
Human molecular genetics - 15 Mar 2014
Rees Elliott, Walters James T R, Chambert Kimberly D, O'Dushlaine Colm, Szatkiewicz Jin, Richards Alexander L, Georgieva Lyudmila, Mahoney-Davies Gerwyn, Legge Sophie E, Moran Jennifer L, Genovese Giulio, Levinson Douglas, Morris Derek W, Cormican Paul, Kendler Kenneth S, O'Neill Francis A, Riley Brien, Gill Michael, Corvin Aiden, Sklar Pamela, Hultman Christina, Pato Carlos, Pato Michele, Sullivan Patrick F, Gejman Pablo V, McCarroll Steven A, O'Donovan Michael C, Owen Michael J, Kirov George
Abstract excerpt
Large and rare copy number variants (CNVs) at several loci have been shown to increase risk for schizophrenia. Aiming to discover novel susceptibility CNV loci, we analyzed 6882 cases and 11 255 controls genotyped on Illumina arrays, most of which have not been used for this purpose before. We identified genes enriched for rare exonic CNVs among cases, and then attempted to replicate the findings in additional 14...
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