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 …

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 …

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 (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 …

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 …

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 …

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 …

Two decades after the completion of the Human Genome Project (HGP), there is still much to
do to ensure that genomics works for the global public good. The focus on populations from …