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http://dx.doi.org/10.5734/JGM.2015.12.1.1

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)
Publication Information
Journal of Genetic Medicine / v.12, no.1, 2015 , pp. 1-5 More about this Journal
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.
Keywords
De novo variants; Autistic disorder; Congenital heart disease; Schizophrenia; Rare diseases;
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