Detecting large copy number variants using exome genotyping arrays in a large Swedish schizophrenia sample

• Published in: Molecular psychiatry Vol. 18; no. 11; pp. 1178 - 1184
• Main Authors: Szatkiewicz, J P, Neale, B M, O'Dushlaine, C, Fromer, M, Goldstein, J I, Moran, J L, Chambert, K, Kähler, A, Magnusson, P K E, Hultman, C M, Sklar, P, Purcell, S, McCarroll, S A, Sullivan, P F
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 01.11.2013; Nature Publishing Group
• Subjects: 631/208/457/649/2157; 692/699/476/1799; Adult and adolescent clinical studies; Amino acid sequence; Arrays; Autism; Behavioral Sciences; Biological and medical sciences; Biological Psychology; Case-Control Studies; Child development; Chromosomes, Human, Pair 16 - genetics; Chromosomes, Human, Pair 22 - genetics; Copy number; Diagnosis; DNA Copy Number Variations - genetics; Exome - genetics; Gene Deletion; Gene Duplication - genetics; Genetic aspects; Genetics; Genome-wide association studies; Genome-Wide Association Study; Genomes; Genomic structural variations; Genotype; Genotyping; Humans; Hybridization; immediate-communication; Medical sciences; Medicine; Medicine & Public Health; Mental disorders; Neurosciences; Pharmacotherapy; Psychiatry; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; Psychoses; Quality control; Schizophrenia; Schizophrenia - genetics; Sensitivity and Specificity; Sweden; Sweden; United States; United States > US; structural variation; schizophrenia; copy number variation; exome array; Illumina; genotyping; Psychosis; Copy number; Schizophrenia; Genetics; Genetic determinism; Polymorphism

Although copy number variants (CNVs) are important in genomic medicine, CNVs have not been systematically assessed for many complex traits. Several large rare CNVs increase risk for schizophrenia (SCZ) and autism and often demonstrate pleiotropic effects; however, their frequencies in the general po...