The journal encompasses genetic and functional genomic studies on human traits and on other model organisms, including mouse, fly, nematode and yeast. Current emphasis is on the genetic basis for common and complex diseases and on the functional mechanism, architecture and evolution of gene networks, studied by experimental perturbation.
According to the Journal Citation Reports, the journal has a 2023 impact factor of 31.7, ranking it 2nd out of 175 journals in the category "Genetics & Heredity".[3]