In addition to genetic variations inheriting from ancestry,humans carry novel mutations that arise in each generation,known as de novo mutations.In recent years,high-throughput sequencing studies based on trios-design("father-mother-offspring")have preliminarily elucidated the origin and characteristics of de novo mu-tations.It has been discovered that de novo mutations play a significant role in various diseases,such as neurodevel-opmental disorders and congenital heart diseases.Therefore,this article mainly reviews the origin,characteristics,and impact of human de novo mutations on offspring health,with a view to provide insight for the future study in this field.
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