J Genet Med.  2015 Jun;12(1):1-5. 10.5734/JGM.2015.12.1.1.

The role of de novo variants in complex and rare diseases pathogenesis

  • 1Yale College, Yale University, New Haven, CT, United States.
  • 2Department of Biomedical Science, Seoul National University College of Medicine, Seoul, Korea. murimchoi@snu.ac.kr
  • 3Hong Kong University of Science and Technology, Hong Kong, China.


De novo variants (DNVs) can arise during parental germ cell formation, fertilization, and the processes of embryogenesis. It is estimated that each individual carries 60-100 such spontaneous variants in the genome, most of them benign. However, a number of recent studies suggested that DNVs contribute to the pathogenesis of a variety of human diseases. Applications of DNVs include aiding in clinical diagnosis and identifying disease-causing genetic factors in patients with atypical symptoms. Therefore, understanding the roles of DNVs in a trio, with healthy parents and an affected offspring, would be crucial in elucidating the genetic mechanism of disease pathogenesis in a personalized manner.


De novo variants; Autistic disorder; Congenital heart disease; Schizophrenia; Rare diseases
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