Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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The role of de novo variants in complex and rare diseases pathogenesis

  • Rahman, Mahir (Yale College, Yale University, New Haven, CT, United States) ;
  • Lee, Woohyung (Hong Kong University of Science and Technology) ;
  • Choi, Murim (Department of Biomedical Science, Seoul National University College of Medicine)
  • Received : 2014.12.05
  • Accepted : 2015.04.17
  • Published : 2015.06.30
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Abstract

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.

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References

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