Replicating genotype–phenotype associations | Nature Skip to main content Thank you for
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The genetic variation that occurs naturally in a population is a powerful resource for studying
how genotype affects phenotype. Each allele is a perturbation of the biological system, and …

From the evolutionary past. . . | Nature Skip to main content Thank you for visiting nature.com.
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Complex traits such as human disease, growth rate, or crop yield are polygenic, or
determined by the contributions from numerous genes in a quantitative manner. Although …

Despite great progress in identifying genetic variants that influence human disease, most
inherited risk remains unexplained. A more complete understanding requires genome-wide …

Mutation rates vary within genomes, but the causes of this remain unclear. As many prior
inferences rely on methods that assume an absence of selection, potentially leading to …

The phenotypic differences between individual organisms can often be ascribed to
underlying genetic and environmental variation. However, even genetically identical …

For many traits, including susceptibility to common diseases in humans, causal loci
uncovered by genetic-mapping studies explain only a minority of the heritable contribution to …

Mutation is the ultimate source of biological diversity because it generates the variation that
fuels evolution. Gene expression is the first step by which an organism translates genetic …

Identifying causal factors for Mendelian and common diseases is an ongoing challenge in
medical genetics. Population bottleneck events, such as those that occurred in the history of …