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 …

Background Cancers arise from multiple acquired mutations, which presumably occur over
many years. Early stages in cancer development might be present years before cancers …

The genetic architecture of autism spectrum disorder involves the interplay of common and
rare variants and their impact on hundreds of genes. Using exome sequencing, here we …

Background Whether schizophrenia and bipolar disorder are the clinical outcomes of discrete
or shared causative processes is much debated in psychiatry. We aimed to assess genetic …

Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic variants …

We present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n
= 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to …

Schizophrenia is a common disease with a complex aetiology, probably involving multiple
and heterogeneous genetic factors. Here, by analysing the exome sequences of 2,536 …

Rare coding variation has historically provided the most direct connections between gene
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …