The Origin and Characteristics of De Novo Mutations in Human and Its Impact on Offspring Health
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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