Schizophrenia is a severe mental disorder with a lifetime risk of about 1%, characterized by
hallucinations, delusions and cognitive deficits, with heritability estimated at up to 80% 1 , 2 . …

Large-scale reference data sets of human genetic variation are critical for the medical and
functional interpretation of DNA sequence changes. Here we describe the aggregation and …

Schizophrenia is a highly heritable disorder. Genetic risk is conferred by a large number of
alleles, including common alleles of small effect that might be detected by genome-wide …

Schizophrenia is a debilitating psychiatric condition often associated with poor quality of life
and decreased life expectancy. Lack of progress in improving treatment outcomes has been …

Background Autism spectrum disorder is a heritable developmental disorder in which
chromosomal abnormalities are thought to play a role. Methods As a first component of a …

Inherited alleles account for most of the genetic risk for schizophrenia. However, new (de
novo) mutations, in the form of large chromosomal copy number changes, occur in a small …

To identify susceptibility loci for bipolar disorder, we tested 1.8 million variants in 4,387 cases
and 6,209 controls and identified a region of strong association (rs10994336, P = 9.1 × 10 −…

Over 100 genetic loci harbor schizophrenia-associated variants, yet how these variants
confer liability is uncertain. The CommonMind Consortium sequenced RNA from dorsolateral …

Worldwide, hundreds of thousands of humans have had their genomes or exomes
sequenced, and access to the resulting data sets can provide valuable information for variant …

Sequencing of gene-coding regions (the exome) is increasingly used for studying human
disease, for which copy-number variants (CNVs) are a critical genetic component. However, …