The conservation of human functional variants and their effects across livestock species.

ABSTRACT: Despite the clear potential of livestock models of human functional variants to provide important insights into the biological mechanisms driving human diseases and traits, their use to date has been limited. Generating such models via genome editing is costly and time consuming, and it is unclear which variants will have conserved effects across species. In this study we address these issues by studying naturally occurring livestock models of human functional variants. We show that orthologues of over 1.6 million human variants are already segregating in domesticated mammalian species, including several hundred previously directly linked to human traits and diseases. Models of variants linked to particular phenotypes, including metabolomic disorders and height, are preferentially shared a

SUBMITTER: Zhao R 

PROVIDER: S-EPMC9492664 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature