遗传疾病和遗传报告杂志

Unraveling Rare Genetic Variants and Their Clinical Implications

Storgaard Nordestgaard

Rare genetic variants refer to genetic alterations that occur at a low frequency within the population. Although individually rare, these variants collectively contribute to a significant burden of genetic disorders. Unraveling the mysteries surrounding rare genetic variants and understanding their clinical implications is a rapidly evolving field that holds immense promise for personalized medicine and improved patient care. This paper aims to explore recent advancements in the identification and characterization of rare genetic variants, as well as their clinical implications.