In celebration of the 20th anniversary of Nature Reviews Genetics, we asked 12 leading
researchers to reflect on the key challenges and opportunities faced by the field of genetics …

The deep evolutionary history of African populations, since the emergence of modern
humans more than 300,000 years ago, has resulted in high genetic diversity and …

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 …

By meta-analyzing the whole-exomes of 24,248 cases and 97,322 controls, we implicate
ultra-rare coding variants (URVs) in ten genes as conferring substantial risk for …

Schizophrenia is a severe psychiatric disorder with high heritability. Consortia efforts and
technological advancements have led to a substantial increase in knowledge of the genetic …

Sequence three million genomes across Africa Skip to main content Thank you for visiting
nature.com. You are using a browser version with limited support for CSS. To obtain the best …

Schizophrenia (SCZ) is a chronic mental illness and among the most debilitating conditions
encountered in medical practice. A recent landmark SCZ study of the protein-coding regions …

Extreme phenotype sequencing has led to the identification of high-impact rare genetic
variants for many complex disorders but has not been applied to studies of severe …

One goal of genomic medicine is to uncover an individual's genetic risk for disease, which
generally requires data connecting genotype to phenotype, as done in genome-wide …

Cognitive impairment is a core feature of schizophrenia and a major contributor to poor
functional outcomes. Methods for assessment of cognitive dysfunction in schizophrenia are …